Test Menu

ACADM (MCAD)

Achodroplasia and Craniosynostosis Syndromes

Breast and Ovarian Cancer, Common Jewish Mutations

Familial BRCA 1 and 2 Mutations (Licensing Agreement with Myriad Genetics)

Fragile X

Galactosemia

Gaucher Disease

Gorlin Syndrome (BCNS)

Hereditary Melanoma

MEN1

MEN2

OTC

Prader-Willi and Angelman Syndromes

Beckwith Weidemann Syndrome

Tay-Sachs Disease Syndrome

Additional Tests


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Sample Submission Form

CPT Codes

Our laboratory performs DNA diagnostic tests for inborn errors in metabolism, mental retardation and cancer susceptibility. If we do not offer a test that you are looking for please check the list of tests offered by other laboratories at Yale.

If you are looking to request a specific test not currently listed on GeneTests or performed in the United States, please contact our laboratory manager, Dan Dykas at (dnalab@yale.edu) or (203) 785-5745.