Who are these tests for? This category of testing aims to establish the molecular cause of germline genetic disorders that people could transfer to their children, and is intended for individuals who already present with symptoms of a genetic disorder. The results can be used to guide therapy and prognostication of disease outcomes. For healthy individuals concerned about diseases they may carry or pass on to their children, please see our Carrier Testing options.
Sample Types: With rare exceptions, in constitutional disorders all cells in the patient's body carry the same disease-causing DNA variant(s). This is the reason that these disorders can be diagnosed by genome sequencing from different sample types such as blood, saliva, buccal swab, tissue biopsies from any organ, cultured cells or formalin-fixed, paraffin embedded (FFPE) samples. OGM testing requires fresh blood or tissue biopsy. Transcriptome analysis requires the specific tissue in which the gene of interest is expressed. These samples require freezing or stabilization at collection. FFPE samples are also acceptable.
Why Praxis Genomics? To diagnose the patient's problem, we identify all types of variants over the entire genome of an individual. These include nuclear and mitochondrial single nucleotide polymorphisms and small insertions-deletions, repeat expansions (Fragile X syndrome), contractions (FSHD), and structural variants of all size and type including those that do not result in loss or gain of genetic material such as inversions and translocations. We also assess methylation states to diagnose imprinted disorders. Additionally, we establish the functional significance of variants with transcriptome studies.
The Praxis Genomics Technology: We can identify all types of variants because we use Short Read Whole Genome Sequencing (SRG), Long Read Whole Genome Sequencing (LRS), Optical Genome Mapping (OGM), and Transcriptome Analysis (SRT) together. The complementary strength of these methodologies, and the fact that the datasets are analyzed together by the same medical director, results in sensitivity and accuracy that other laboratories cannot match.
The importance of functional testing: Variants identified by SRG, LRS, and OGM often have not been previously described, and it is important to show that they are indeed the cause of the patient's symptoms. Transcriptome (SRT) analysis provides such information based on the quantity and quality of the transcripts made from the affected genes.
Easy to read reports: All this information is filtered and interpreted by a board-certified surgical and molecular genetic pathologist. An easy-to-understand, concise report is issued with a clear diagnosis, allowing prognostication and choosing the best possible therapy for the patient.
Flexible Testing Options: Although we recommend that SRG and OGM tests be performed simultaneously they can also be performed individually or sequentially. We also offer a graded reporting scheme consisting of an Aneuploidy testing, Basic Exome, Expanded Exome and Whole Genome analysis from the same genomic dataset at a reduced cost. If the cause of the patient's condition cannot be established based on currently available information, reanalysis is available as described below.
Reanalysis: As genomic databases and knowledge grow, previously inconclusive results may yield new diagnoses. Praxis Genomics offers periodic reanalysis to ensure patients benefit from the latest discoveries. No case closed until a diagnosis has been made.
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).
Purpose: Optical Genome Mapping (OGM) is for the evaluation of structural changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:
Purpose: OGM is for the evaluation of structural changes in the DNA that commonly underlie the pathogenesis of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient. Changes that are detected by OGM are the following:
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology (ONT) aims to establish the molecular cause of germline genetic disorders that people manifest and could transfer to their children. For healthy individuals concerned about variants they may carry or pass to their children, please see our Carrier Testing options. Unlike short read sequencing which only detects and cannot size long repeats, LRS is especially well suited to size repeat expansions of any size and composition and to determine the phase of variants. The results can be used to guide therapy and prognostication of disease outcomes.
Purpose: Methylome Sequencing using Oxford Nanopore Technology (ONT) is designed to detect methylation changes in the genome. Such changes do not alter the sequence of the genome, but change the accessibility of the genetic information. Such changes in accessibility of genes are the cause of imprinting disorders such as Prader-Willi/Angelman syndrome and Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome and others.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: This test combines Optical Genome Mapping (OGM) and Whole Genome Sequencing (SRG) with potential addition of transcriptome (SRT) sequencing. It aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic and management information for optimized personalized treatment for the patient.
Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping, DNA sequencing or methylome sequencing. These are:
Purpose: Heredity testing aims to establish the paternal and maternal origins of an individual based on analysis of the single nucleotide variants (SNVs) in the Y-chromosome and the mitochondrial genome, respectively. The mitochondrial genome and the Y chromosome are like molecular diaries. Every few generations, a variant is established and thus variants introduced over thousands of generations take us back to the molecular Adam and Eve.
Relatedness Testing aims to establish the degree of relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1-22). It will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.
Purpose: This test is to diagnose FSHD. FSHD is a muscular dystrophy with a characteristic clinical presentation and very complex molecular pathogenesis. Rather than being caused by a single mutation, it arises from the combined effects of several genetic characteristics of the individual. In other words, changes that would cause disease in one person may not cause any or will cause only mild symptoms in another. This variation can be observed even within affected families. Prognostication of the disease and providing reproductive recommendations for affected individuals requires a precise genetic evaluation of the factors involved. Two main forms of the disease are described: FSHD1 and FSHD2. FSHD1 is the more common form, representing about 95 percent of all cases, while FSHD2 is suspected when the patient testing for FSHD1 yields negative results for causes of FSHD1. Currently no single technology can characterize all the factors involved in pathogenesis for both types of FSHD. Optical Genome Mapping (OGM) can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2.
Purpose: Repeat expansions can be identified using Short Read Genome Sequencing, but their size cannot be precisely determined. We offer this test based on optical genome mapping to accurately size repeat expansions greater than 500 bp in length.
Purpose: This test is used to assess whether a variant known to cause disease in a proband is present in other family members. The type of variant determines which laboratory method is used. For small variant assessment, we use PCR-based targeted amplicon sequencing. For known familial variant assessment of structural variants and repeat expansions we use whole genome sequencing (SRG001) or optical genome mapping (OGM001). For phasing of variants, we use long read genome sequencing (LRS001).
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: This test aims to establish the molecular cause of genetic disorders that people could transfer to their children. The results can be used to guide therapy and prognostication of disease outcomes. This test is for people who already show symptoms of a disorder. We offer carrier testing for people who worry about having variants that would cause them develop disease later in life. The reason for this distinction is that diagnostic and carrier testing data requires different types of analysis and reporting.
Purpose: Somatic transcriptome analysis evaluates the functional consequences of genomic alterations within a tumor. By profiling the RNA expressed in malignant tissue, this test reveals how DNA-level changes translate into oncogenic activity, guiding diagnosis, prognosis, and therapeutic decision-making.
Key applications include:
Purpose: Long Read Sequencing (LRS) using Oxford Nanopore Technology aims to establish the molecular cause of malignancies and can provide diagnostic, prognostic, and management information for optimized personalized treatment. LRS is uniquely suited for somatic applications requiring methylation-based tumor classification, characterization of complex structural rearrangements, and phasing of somatic variants. If predisposition to a certain malignant condition is suspected, one should use our carrier tests.
Purpose: Whole Genome Amplification (WGA) is a laboratory process that increases the quantity of available DNA from a sample prior to testing. It is offered as an add-on when the quantity of input DNA is insufficient for standard testing workflows. WGA makes molecular diagnosis possible in situations where sample availability is severely limited, including single cells, microdissected tissue regions, degraded archival samples, or any clinical scenario where only minimal biological material is available.
Purpose: Polycystic Kidney Disease (PKD) is one of the most common inherited monogenic disorders, affecting approximately 1 in 400 to 1 in 1,000 individuals worldwide. It is characterized by the progressive development of fluid-filled cysts in the kidneys, leading to chronic kidney disease and in many cases end-stage renal failure. Two main forms are recognized. Autosomal Dominant PKD (ADPKD) is caused by pathogenic variants in PKD1 or PKD2 and accounts for the majority of cases.
Purpose: Pharmacogenomic testing identifies genetic variants that affect an individual's response to medications. These variants influence drug metabolism, therapeutic efficacy, and risk of adverse drug reactions. Pharmacogenomic results can guide medication selection and dosing across a broad range of therapeutic areas including psychiatry, cardiology, oncology, pain management, neurology, and infectious disease. Incorporating pharmacogenomic information into clinical decision-making reduces the risk of adverse drug events and improves the likelihood of selecting an effective therapeutic regimen on the first attempt.
Purpose: Human Leukocyte Antigen (HLA) genotyping determines an individual's allele assignments across the major histocompatibility complex (MHC), the most polymorphic region of the human genome. Clinical applications of HLA genotyping include assessment of drug hypersensitivity risk, diagnosis of HLA-associated disorders, transplantation matching, and disease susceptibility assessment.
Purpose: Prenatal testing allows the full molecular diagnostic capabilities of Praxis Genomics to be applied to samples obtained during pregnancy. Early molecular diagnosis of a developing fetus enables informed reproductive decisions, preparation for the management of an affected child, and in some cases early therapeutic intervention. Prenatal testing is available as an add-on to Aneuploidy Testing (SRG801), Basic Exome Trio (SRG503), Whole Genome Sequencing Trio (SRG003), and Optical Genome Mapping (OGM001–004).