- 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.
- Now available! Neuromuscular Disorders Panels
Neuromuscular Disorders Panel ( 76 genes)
Limb-Girdle Muscular Dystrophy Panel
Syndromic Congenital Muscular Dystrophy Panel
Congenital Myopathy & Muscular Dystrophy Panel
Myofibrillar Myopathy Panel
For more information, please visit www.genedx.com/neuromuscular
- NOW AVAILABLE! STAT Epilepsy Panel
STAT Epilepsy Panel
2 week turnaround time
Sequencing and Del/Dup of 18 Genes(ALDH7A1, ARX, CDKL5, FOLR1, KCNQ2, KCNQ3, MECP2, MEF2C, PCDH19, PNPO, POLG, SCN1A, SCN1B, SCN2A, SCN8A, SLC2A1, SPTAN1, STXBP1)
For more information please click here.
- NOW AVAILABLE! Tuberous Sclerosis Complex (TSC) Testing at GeneDx!
Tuberous Sclerosis Panel (Sequencing and Deletion/Duplication of TSC1 and TSC2 Genes).
For more information, please click here.
- NOW AVAILABLE! Congenital Ichthyosis XomeDxSlice
Congenital Ichthyosis XomeDxSlice – allows concurrent analysis of 38 genes associated with the various forms of congenital ichthyosis and related disorders, including but not limited to work-up of newborns with Collodion Membrane or Harlequin Ichthyosis, Epidermolytic Ichthyosis, KID-, Netherton-, Sjoegren-Larsson-, Ichthyosis-Prematurity Syndrome and Neutral Lipid Storage Disease. The test is based on whole exome capture and NextGen sequencing with targeted analysis of 38 disease genes, thus, achieving substantial savings in both cost and time, with little loss of sensitivity. In most cases, this should now be the test of first choice. For more information please click here.
- Expanded Marfan/TAAD NGS Panel
GeneDx’s Marfan/TAAD Next-Generation Sequencing Panel will now include four new genes (FLNA, MED12, SKI, TGFB2). The GeneDx Marfan/TAAD Sequencing Panel has been expanded to include 16 genes (ACTA2, CBS, COL3A1, COL5A1, COL5A2, FBN1, FBN2, FLNA, MED12, MYH11, SKI, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2).
Please click here for more information.
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