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.

Turn around times…

Typical turn around time for PCR tests is approximately 1-2 weeks and for gene sequencing/MLPA is 2-3 weeks. Turn around time for next generation sequencing tests is 4-6 weeks.  Please call 617-492-7083 for questions regarding specific tests.

Specimen Requirements

List of Diagnostic Tests

Molecular DNA Requisition Form

Genetic Testing for Developmental Disorders Form

Prenatal Diagnosis (CVS and Amniocentesis) Requisition Form

Please note that Adobe Acrobat Reader is necessary in order to view the Requisition Form, which can be completed online and then printed for a signature. The latest version of the Reader may be downloaded for free by clicking on the image below.