# Praxis Genomics LLC

> Praxis Genomics is a CLIA-certified, CAP-accredited clinical genomics laboratory based in Atlanta, GA, offering comprehensive genetic testing services with industry-leading accuracy and approximately one-week turnaround time.

## About

Praxis Genomics is the only provider in the world to combine short-read and long-read whole genome sequencing (WGS), optical genome mapping (OGM via Bionano Saphyr), and whole transcriptome sequencing in a single clinical workflow. This multi-technology approach provides unparalleled diagnostic sensitivity for constitutional disorders, cancer diagnostics, carrier screening, prenatal testing, and hereditary/relatedness analysis.

- **Location:** 6115 Peachtree Dunwoody Road, Suite 220, Atlanta, GA 30328
- **Phone:** (678) 837-4022
- **Hours:** Monday–Friday, 8AM–6PM
- **Website:** https://praxisgenomics.com
- **Certifications:** CAP Accredited, CLIA Certified, HIPAA Compliant

## Technologies

- **Short-Read Whole Genome Sequencing (WGS):** SNVs, indels, CNVs, structural variants
- **Long-Read Sequencing (Oxford Nanopore):** Repeat expansions, complex rearrangements, methylation
- **Optical Genome Mapping (Bionano Saphyr):** Balanced translocations, inversions, large structural variants invisible to microarray
- **Whole Transcriptome Sequencing (RNA-Seq):** Gene expression, splice variants, fusion transcripts
- **Methylome Analysis:** Epigenetic profiling via long-read sequencing

## Services & Test Categories

### Constitutional (Diagnostic) Testing
- **Basic Exome** (SRG501–SRG506): Proband, Duo, Trio, and 4-Sample configurations
- **Expanded Exome** (SRG507–SRG511): Proband, Duo, Trio, and 4-Sample configurations
- **Whole Genome Sequencing** (SRG001–SRG004): Short-read WGS — Proband, Duo, Trio, 4-Sample
- **Whole Genome Sequencing – Long Read** (LRS001): Oxford Nanopore long-read sequencing
- **Whole Genome Methylome Testing – Long Read** (LRS101): Methylation analysis via long-read
- **Optical Genome Mapping** (OGM001–OGM004): Bionano Saphyr — Proband, Duo, Trio, 4-Sample
- **Combination Testing** (PRX001–PRX010, PRX101–PRX104): Combined OGM + WGS, with optional transcriptome
- **Transcriptome** (SRG201–SRG204): RNA sequencing analysis — Proband, Duo, Trio, 4-Sample
- **External Whole Genome Data Analysis** (SRG101–SRG104): Analysis of externally sequenced data
- **Aneuploidy Testing** (SRG801): Chromosomal aneuploidy screening
- **FSHD Testing**: Facioscapulohumeral muscular dystrophy specific testing
- **Repeat Expansion Sizing**: Analysis of repeat expansion disorders
- **Known Familial Variant Testing** (KFV001): Targeted assessment for known variants

### Carrier Testing
- **Whole Genome Sequencing** (SRG005–SRG006): Individual and Couple carrier screening
- **Optical Genome Mapping** (OGM005–OGM006): Individual and Couple carrier screening
- **Combination Testing** (PRX005–PRX006): Combined OGM + WGS carrier screening

### Prenatal Testing
Most constitutional tests are also available for prenatal specimens. Praxis Genomics offers rapid turnaround for time-sensitive prenatal cases, accepting cultured and uncultured amniocytes, CVS, and POC samples.

### Somatic (Cancer) Testing
- **Whole Genome Sequencing** — Somatic configuration
- **Optical Genome Mapping** — Somatic configuration
- **Combination Testing** — Somatic configuration
- **Transcriptome** — Somatic configuration

### Heredity & Relatedness Testing
- **Mitochondrial and Y Haplogroup Analysis** (SRG301)
- **Relatedness Testing Duo** (SRG302)
- **Relatedness Testing Trio** (SRG303)

## Sample Types Accepted

- Blood (EDTA tubes)
- Saliva
- Buccal swabs
- Cultured cells (lymphoblasts/fibroblasts)
- Tissue samples
- Amniocytes, CVS, POC (prenatal)

## Key Pages

- [Test Catalog](https://praxisgenomics.com/test-list) — Full test catalog with descriptions and test codes
- [Prenatal Testing](https://praxisgenomics.com/prenatal-testing) — Prenatal testing information and sample requirements
- [Schedule Consultation](https://praxisgenomics.com/scheduling) — Schedule a consultation or sample pickup
- [Forms](https://praxisgenomics.com/forms) — Downloadable test request forms and consent forms
- [Shipping](https://praxisgenomics.com/shipping) — Sample shipping instructions
- [Billing](https://praxisgenomics.com/billing) — Billing and payment information
- [Research & Publications](https://praxisgenomics.com/research) — Published research and publications
- [Blog](https://praxisgenomics.com/blog) — Clinical case studies and company news
- [FAQ](https://praxisgenomics.com/faq) — Frequently asked questions

## Published Research & Case Studies

- [OGM Reveals Complex Chromosomal Rearrangement in Developmental Disorder](https://praxisgenomics.com/blog/optical-genome-mapping-xq28-deletion) — Combining OGM with WGS to identify rearrangements missed by microarray
- [Genetic Origins of the Huns, Avars, and Hungarians](https://praxisgenomics.com/blog/genetic-origins-huns-avars-hungarians) — Ancient DNA analysis tracing Central European migration patterns
- [DNA Today Podcast: Optical Genome Mapping](https://praxisgenomics.com/blog/dna-today-podcast-optical-genome-mapping) — Discussion of OGM technology and clinical applications
- [Accelerating Prenatal Diagnostics](https://praxisgenomics.com/blog/accelerating-prenatal-diagnostics) — Rapid genomic testing for prenatal specimens
- [Multi-Site OGM Assessment](https://praxisgenomics.com/blog/multisite-ogm-assessment) — Multi-center evaluation of optical genome mapping clinical performance
- [ASHG: A New Paradigm for Genomic Diagnosis](https://praxisgenomics.com/blog/ashg-new-paradigm-genomic-diagnosis) — Presentation on combined OGM + WGS diagnostic approach
- [Complete Genomics Service Provider](https://praxisgenomics.com/blog/complete-genomics-service-provider) — Overview of comprehensive genomic service offerings
- [WGS + RNA-Seq for Neurological Diagnosis](https://praxisgenomics.com/blog/wgs-rnaseq-neurological-diagnosis) — Combined sequencing approach for neurological disorders
- [CorrectKin: Ancient DNA Relatedness](https://praxisgenomics.com/blog/correctkin-ancient-dna-relatedness) — Novel algorithm for kinship estimation from ancient DNA
- [Árpád Dynasty: Béla III](https://praxisgenomics.com/blog/arpad-dynasty-bela-third) — Genomic analysis of medieval Hungarian royalty
- [Hunyadi Genetic Legacy](https://praxisgenomics.com/blog/hunyadi-genetic-legacy) — Genetic analysis of the Hunyadi family lineage

## Contact

For test ordering, billing inquiries, or clinical consultation:
- **Phone:** (678) 837-4022
- **Website:** https://praxisgenomics.com
- **Email:** support@praxisgenomics.com