- 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! 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.
- Tumor Genotyping Through GenPath Diagnostics
GeneDx's sister laboratory GenPath Diagnostics offers testing for 14 oncogenes in one test.
OnkoMatch: The Paradigm Shift in Tumor Genotyping
GenPath Diagnostics offers OnkoMatch, a highly sensitive tumor genetics assay that detects mutations in 14 common oncogenes in solid tumors. The testing methodology is licensed from Mass General Hospital and used in several NCCN designated sites to screen patients for innovative novel targeted therapies.
Oncogenes: AKT1, APC, BRAF, CTNNB1, EGFR, IDH1, KIT, KRAS, MAP2K1, NOTCH1, NRAS, PIK3CA, PTEN, TP53
Clinical Utility: Mutation detection to determine targeted therapy eligibility
Turnaround Time: 4 Days
Cancers: Breast, Lung, Colon, Skin, Pancreas and other various solid tumors
Specimen Requirements: FFPE
Please email Chirag Desai at email@example.com
The Genetic Basis of Cancer
Historically, cancer treatment has been based exclusively on the cancer type and tumor staging. The pathological diagnosis would determine the specific treatment regimen. Genetics did not play a significant role in patient management. Research in the past 15 years has changed the treatment landscape.
Scientific advances in genetics has led to the discovery of cancer molecular drivers, or mutations. These mutations confer specific advantages to cancer growth and proliferation. Tests, such as OnkoMatch, can detect mutations in various cancers (colon, breast, lung). New targeted therapies that block the ill-effects of these mutations have recently been approved.
Sample Current FDA Targeted Therapies
Erlotinib – EGFR mutations
Afatinib – EGFR mutations
Zelboraf – BRAF mutations
Cetuximab – KRAS wild type
Sample Clinical Trial Targeted Therapies
GDC-0973 – MEK inhibitor
MEK162 – MEK inhibitor
Dabrafenib – BRAF inhibitor
BKM120 – PI3K inhibitor
For more information and ordering details please email firstname.lastname@example.org.
- GeneDx Webinar
ACMG's Recommendations for Reporting Incidental Findings in Clinical Exome and Genome Sequencing
by Sherri Bale, Ph.D., FACMG & Leslie Biesecker, M.D., FACMG
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