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

• 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.

• 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. 

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