- Cardiac Disorders
- Disorders of Sex Differentiation
- Dysmorphology Disorders
- Endocrine Disorders
- Eye Disorders
- Hematologic Disorders
- Hereditary Cancer Syndromes
- Immunologic Disorders
- Metabolic Disorders
- Mitochondrial Disorders
- Neurological Disorders
- Prenatal Diagnosis
- Renal Disorders
- Rheumatologic Disorders
- Skeletal Disorders
- Skin Disorders
What We Do
GeneDx specializes in genetic testing for rare hereditary disorders. Our mission is to make clinical testing available to people with rare genetic conditions and their families.
Most of our tests include full gene analysis by DNA sequencing, the gold standard of genetic testing. We invite you to explore our site, where you will find comprehensive information and all of our paperwork. Please note that GeneDx does not provide Direct-to-Consumer testing. All tests must be ordered, and results sent to a health care provider, usually a physician or genetic counselor. Families are encouraged to present our material to their health care providers who can evaluate the appropriateness of testing.
For diagnostic testing in rare disorders, contact GeneDx… Where rare is common.
- Coming Soon! New Neurology Test Offerings
We are updating our neurology test menu to include Neurofibromatosis testing and an expanded Microcephaly panel. Click the link below to learn more…
- Updates to Hereditary Cancer Testing
GeneDx has updates to the Hereditary Cancer Testing menu!
Click the link for more information:
- Select ACMG 2016 Posters Now Available! | April 13, 2016
This year at the ACMG, we presented 16 poster presentations. To read the selected four complete posters, click on the links below.
Copy Number Variants in Cardiomyopathy-Associated Genes
Daniela Macaya, PhD, FACMG; Rebecca Latimer, MMSc, CGC; Gabriele Richard, MD, FACMG; Shelley Patrick, MS, CGC; Christian Antolik, PhD, FACMG
Diagnostic Yield From Reanalysis of Whole Exome Sequencing Data
Elizabeth Williams, MS, CGC; Kyle Retterer, MS; Megan Cho, MS, CGC; Gabriele Richard, MD, FACMG; Jane Juusola, PhD, FACMG
Diagnostic Yield of Multi-Gene Panels for Brain Malformation Disorders
Fanggeng Zou, PhD; Tracy Brandt, PhD, FACMG; Anita Shanmugham, MS, CGC; Dianalee McKnight, PhD, FACMG
Yield of Pathogenic/Likely Pathogenic Variants in Breast Cancer Patients Undergoing an Inherited Cancer Panel Based Upon Ethnic Background
Natalie J. Carter, MS, LCGC; Susan Hiraki, MPH, MS, CGC; Lauren Yackowski, MS, CGC; Kristin A. Theobald, MS, LCGC; Patricia D. Murphy, PhD, FACMG; Ying Wang, MBBS, PhD, FACMG; Kathleen S. Hruska, PhD, FACMG; Rachel T. Klein, MS, CGC
- Genetics in Medicine Publications
GeneDx has published two studies in Genetics in Medicine. Congratulations to our GeneDx authors!
To read more, please click on the links below:
- Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing
- Clinical Application of Whole Exome Sequencing Across Clinical Indications
- New ACMG Guidelines
Recently the American College of Medical Genetics published new guidelines for the interpretation of genetic sequence variants (Richards et al. (2015) Genetics in Medicine: Official Journal of the American College Of Medical Genetics: (PMID: 25741868). The process of variant interpretation is dynamic and challenging. The purpose of the guidelines is to standardize the terminology used by clinical laboratories when describing variants, and to establish specific criteria that should be utilized when interpreting sequencing variants. On Wednesday, September 30, 2015, GeneDx transitioned to using the new ACMG terminology in our reports. The chart below outlines the new terminology as it relates to our previous report language. Additionally, over the next 6 months, GeneDx will be implementing the guidelines into our variant interpretations. Please continue to check our website for updated information and announcements as we move forward with the implementation of these new guidelines.
Previous GeneDx Terminology New Terminology Based on ACMG Guidelines Mutation Pathogenic variant Variant, likely mutation/variant, likely disease-causing/expected pathogenic Likely pathogenic variant Variant of unknown significance Variant of uncertain significance Variant, likely benign Likely benign variant Benign polymorphism Benign variant
Likely benign Variants
Variants that are interpreted to be “likely benign” have multiple lines of evidence supporting the argument that they are not the cause of disease in an individual. Therefore, in accordance with the ACMG guidelines, as of Thursday, October 29, 2015, GeneDx will no longer routinely report likely benign variants in our reports. A list of benign and likely benign variants can be provided upon request.
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