Tests Offered

DNA testing services are listed below by gene  and by disease. Click on a test for a brief description with a link to a detailed assay summary which includes specimen requirements, order codes and CPT codes.

For the current price list, please email us at [email protected] with your name, title and institution. Please review the Logistics, Billing, and Frequently Asked Questions pages. If you have questions, please contact us. If you are a patient, please see our patient information. Some of our services are described in brochures which are available for download or by mail.

Multiple and complementary tests are available for comprehensive diagnostic testing. For most genes, sequence analysis covers the entire coding region and associated splice junctions. For many genes, deletion/duplication analysis is also available.

DNA Testing Services by Gene Symbol (Gene Name)

Complementary Tests (Gene(s) Tested)

Molecular Oncology Testing Services

Solid tumor hotspot mutation panels
Single gene tests

Microsatellite Instability Analysis (MSI)
MLH1 somatic promoter hypermethylation (MLH1-METH)
Prosigna™ Breast Cancer Prognostic Gene Signature Assay (PROSIGNA-BREAST)

Genetic Testing Services by Disease (Genes Tested)

Cancer Predisposition
Coagulopathies
  • Hemophilia A (F8)
  • Hemophilia B (F9)
  • von Willebrand Disease type 2N Normandy (VWFNa)
  • Venous Thromboembolism (F5)
Connective Tissue Disorders
  • Marfan Syndrome/MASS/Familial Ectopia Lentis (FBN1)
  • Loeys-Dietz Syndrome (TGFBR1, TGFBR2)
Other Hereditary Disorders
  • Ataxia Telangiectasia (ATM)
  • Duchenne and Becker Muscular Dystrophy (DMD)
  • LMNA (Lamin A/C) related disorders (LMNA)
  • Rett Syndrome/male infantile encephallitis (MECP2, STK9/CDKL5)