Medical Specialties
- 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
Announcement
Free the Data!
Please consider submitting BRCA1/2 testing results from your patients to www.sharingclinicalreports.org.
See: http://nyti.ms/14hUJsu for an explanation of the issue.
Thank you, Your GeneDx Team
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.
What's New
- NOW AVAILABLE! XomeDxSlice – EB
XomeDxSlice – EB Using whole exome capture and sequencing, ALL of the known genes for the various forms of Epidermolysis Bullosa (Dystrophica, Simplex, Junctional) can be analyzed at one time, 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 a new patient with the diagnosis of Epidermolysis Bullosa.
For more information please click here.
- New MODY Sequencing Panel at GeneDx
The Comprehensive Maturity-Onset Diabetes of the Young (MODY) Panel utilizes Next-Generation Sequencing technology to analyze 5 genes (GCK, HNF1A, HNF1B, HNF4A, PDX1) associated with MODY, making it the most comprehensive genetic testing available for these disorders.
For more information please click here.
- GeneDx now tests for 38 genes associated with dilated cardiomyopathy
Eleven new genes (ACTN2, ANKRD1, CSRP3, EMD, NEXN, RBM20, SCN5A, TCAP, TNNC1, TTN, and VCL) have been added to make our test even more comprehensive. Based on recent publications these additional genes are expected to increase this panel’s detection rate by approximately 20% (Herman 2012, McNair 2011).
For more information please view our Dilated Cardiomyopathy Panel.
- New SCID Panel Testing at GeneDx!
The GeneDx Comprehensive Severe Combined Immunodeficiency (SCID) Panel is available now!
The Comprehensive Severe Combined Immunodeficiency (SCID) Panel utilizes Next-Generation Sequencing technology to analyze 18 genes associated with SCID disorders, making it the most comprehensive genetic testing available for these disorders. [...]
- New Mitochondrial test at GeneDx!
The GeneDx Comprehensive Mitochondrial Nuclear Gene Panel (sequencing and deletion/duplication testing for 101 genes) Available Now!
Comprehensive Analysis of 101 Nuclear Genes for Clinical Molecular Diagnosis of Mitochondrial Disorders by: Next-Generation Sequencing (using PCR-based sequence enrichment*) and Exon-Level Deletion/Duplication analysis. [...]
Stay Connected
Sign up for our FREE newsletters
Licensing
CLIA #21D0969951
MD State License 953
CA State License COS800286
FL State License 800026369
NY State License PFI# 8374 » NY Test List
RI State License LCO00564
EIN: 20-5446298
NPI: 1487632998
