Genomic Testing

Select Test Category:

Constitutional Diagnostic Testing


Who are these tests for? This testing category is primarily for patients who already show symptoms of a disorder. Patients without symptoms can also be tested but require different analysis and reporting, please see the “Carrier Individual” or “Carrier Couple” links above for more information.


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 from different sample types such as blood, saliva, buccal swab, tissue biopsies from any organ or cultured cells. OGM testing requires fresh blood or tissue biopsy.


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.


The Praxis Genomics Technology: We can identify all types of variants because we use Short Read Whole Genome Sequencing (SRG) and Optical Genome Mapping (OGM) together. The complementary strength of the two methodologies, and the fact that the two 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 and OGM often have not been previously described and it is important to show that they indeed cause 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 medical doctor. An easy-to-understand, concise report is issued with a clear diagnosis, allowing prognostication and choosing the best possible therapy for the patient.


Financial considerations: 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 a 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, we provide reanalysis of the data one year after the testing was done.



Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Known Familial Variant Testing

This technique is used to assess whether a variant known to cause disease in a family is present in other family members besides the proband tested. This is accomplished by targeted enrichment of the specific area from other family members and sequencing that region to test for the presence of the familial variant. This method is for single nucleotide variants (SNVs) and small insertions/deletions (InDels) only.

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing

Optical Genome Mapping

Purpose: Optical Genome Mapping, (OGM) is for the evaluation of large-scale changes in the DNA that can cause heritable disorders of any kind. Changes that are detected by OGM are the following:

  • Intra- and inter- chromosomal translocations both balanced and unbalanced
  • Inversions
  • Complex chromosomal rearrangements
  • Contraction of a subtelomeric macrosatellite repeats (e.g. D4Z4 FSHD)
  • Tandem repeat expansions (Fragile X, Myotonic Dystrophy 1 and 2, C9ORF72, and others)

Optical Genome Mapping

Purpose: OGM is for the evaluation of large-scale 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:

  • Intra- and inter-chromosomal translocations both balanced and unbalanced.
  • Inversions
  • Complex chromosomal rearrangements

Whole Genome Sequencing

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.

Whole Genome Sequencing (Long Read)

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.

Whole Genome Methylome Testing (Long Read)

Purpose: This test aims to establish the molecular cause of imprinting genetic disorders, such as Prader-Willi/Angelman Syndromes, Beckwith-Wiedemann/Silver-Russell Syndromes. Also this test allows determination of biased X chromosome inactivation. 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.

Aneuploidy Testing

Purpose: This test aims to confirm the results of NIPT testing based on WGS information. It is limited to reporting out CNVs greater than 10kb in length. The test is performed in both pre- and post-natal samples. The results can be used to guide reproductive decisions.

Whole Genome Sequencing

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.

Combination Testing

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.

Combination Testing

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.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. These are:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases complete loss of transcription (Prader Willi sy.)
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting
    • chromatin structure and adjacent gene expression (FSHD)
  • Repeat expansions affecting transcript levels & splicing.

Heredity & Relatedness

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 relationships between two individuals. This type of testing relies on the variants that are shared between individuals on the autosomes (Chromosomes 1 - 22). It takes into account about 200 million well established relatively rare variants that will provide a reliable estimate of the degree of relatedness between two individuals up to five degrees of separation.

FSHD Testing

Purpose: This test is to diagnose FSHD. Optical genome mapping can determine whether the patient has FSHD1 and whole genome sequencing can diagnose FSHD2. At Praxis Genomics, we offer testing for FSHD1 and FSHD2 individually, as well as in combination.

Repeat Expansion Sizing

Purpose: Repeat expansions can be identified using Whole 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 500bp in length.

Known Familial Variant Testing

Basic Exome

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.

Expanded Exome

Our Expanded Exome test is based on Whole Genome Sequencing. This minimizes the number of false positive and false negative results seen in capture-based panel and exome studies and allows us to report out all known pathogenic variants irrespective of their location. Basic Exome is defined as coding regions +/- 100bps plus mitochondrial genome (SNV, deletions) and single exon resolution CNV calling; Expanded Exome adds repeat expansion assessment for all know repeat expansion associated conditions.

This test can be upgraded to Whole Genome Sequencing (SRG511) and Optical Genome Mapping (OGM001-004) without providing additional patient sample.

The Expanded Exome -> Whole Genome upgrade architecture protects the customer financially since the upgrade from a negative exome to Expanded Exome or genome costs only the difference between the price of the respective tests and no new sample is required.

Transcriptome

Purpose: Transcriptome analysis is a method that allows evaluation of the functional consequences of DNA variants discovered by optical genome mapping or DNA sequencing. Our test allows comparative analysis of the normal and malignant cell transcriptomes, thus allowing identification of the following changes driving the cellular transformation:

  • Deletions, insertions, inversions, translocations affecting
    • regulatory regions resulting in altered gene expression or alternative transcription initiation and termination sites
    • coding regions resulting in shortened or expanded or chimeric transcripts
    • imprinted loci resulting in some cases to complete loss of transcription
  • Single nucleotide changes or small insertions deletions affecting
    • splicing resulting in exon skipping or alternative splicing
    • translation initiation and termination resulting in truncated or absent transcripts
  • Repeat number changes affecting chromatin structure and adjacent gene expression.
  • Repeat expansions affecting transcript levels & splicing