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

• 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 cdesai@genpathdiagnostics.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 cdesai@genpathdiagnostics.com.

• 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 

  Click video icon to watch to the webinar from Tuesday, Septemeber 10, 2013

   

• GeneDx Updates Inherited Cancer Panels

  Cancer Panels:

  Comprehensive Cancer Panel (29 genes)
  Breast /Ovarian Cancer Panel (21 genes)
  Breast Cancer High Risk Panel (6 genes)
  BRCA1/2 Ashkenazi Founder Mutation Panel
  BRCA1/2 Sequencing and Del/Dup Analysis
  Colorectal Cancer Panel (17 Genes)
  Lynch/Colorectal High Risk Panel (7 genes) 
  Pancreatic Cancer Panel (16 Genes)
  Endometrial Cancer Panel (11 Genes)
   
   

  Please click here for more information.

• Now Available: New Expanded Cardiology Panels

  New Cardiology Panels:
  Comprehensive Cardiomyopathy Panel (seq & del/dup 76 genes)
  Comprehensive Arrhythmia Panel (seq & del/dup 30 genes)
  Pulmonary Arterial Hypertension Panel (seq & del/dup 5 genes)
  Hereditary Hemorrhagic Telangiectasia (seq & del/dup 4 genes)
  Long QT Syndrome (seq & del/dup 12 genes)
   
  Please click here for more information.

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