Yale University Cytogenetics Laboratory

The Yale University DNA Diagnostics Laboratory is a College of American Pathologists and CLIA certified laboratory with decades of experience in the molecular diagnosis of genetic disease. We provide testing for cancer predisposition, metabolic and developmental disorders.

Our laboratory provides molecular diagnostic testing for a variety of genetic diseases. As technology progresses, our goal is to to provide comprehensive testing by phenotype; that is, to offer complete molecular testing for a given genetic disease state. In this way, more patients will receive the best care possible based on their unique genetic makeup.

FAQ

Testing

We understand that genetic information often outpaces the availability of diagnostic assays currently available. Therefore, when appropriate, we are happy to provide custom re-sequencing assays . If you are looking to request a specific test not currently listed in GeneTests, please contact our laboratory manager, Dan Dykas at dnalab@yale.edu or (203) 785-5745 to arrange for this service.

Tests include:

• BRCA1/2 Common Jewish Mutations – CPT 81212
• BRCA1/2 Familial Mutations – CPT 81215 (SS BRCA1) CPT 81217 (SS BRCA2)
• Fragile X Syndrome – CPT 81243
• Gorlin Syndrome (NBCCS, BCNS) - CPT 81479
• Hereditary Melanoma – CPT 81404
• Medium chain acyl dehydrogenase deficiency (MCADD) - CPT 81406
• Multiple Endocrine Neoplasia Type I (MEN1) - CPT 81405
• Multiple Endocrine Neoplasia Type II (MEN 2) - CPT 81405
• Ornithine Transcarbamylase Deficiency (OTCD) - CPT 81405
• Prader-Willi (PWS) and Angelman (AS) Syndromes (BWS) - CPT 81331
• PTEN Testing – CPT 81321
• EXTENDED GENE PANEL - CPT code based on genes tested