DNA Diagnostics

About testing…
DNA analysis needs careful prior planning for each disorder, given the number of mutations known and determinable, and possible other limitations including more than one disease locus, degrees of certainty, etc. Some families might benefit from combined analytic strategies. Given these complexities, physicians may need to first discuss the family details and diagnosis with us by telephone or e-mail, before submitting samples. We provide specialist advice about patient counseling or management to the referring counselor or physician. Typical turn around time for PCR tests is approximately 2-4 weeks and for gene sequencing/MLPA is 4-6 weeks. Please call (617) 638-7083 for questions regarding specific tests.
Specimen Requirements
List of Diagnostic Tests
Molecular DNA Test Requisition Form
Please note that Adobe Acrobat Reader is necessary in order to view the Requisition Form, which can be completed on-line and then printed for a signature. The latest version of the Reader may be downloaded for free by clicking on the image below.




