Do you prefer a blood specimen over the buccal brush specimen? Is there any difference?
The accuracy and turnaround time of the testing is the same between a blood specimen and a buccal brush specimen. For nearly all of our tests, the quality of DNA obtained from a blood specimen and a buccal brush specimen is sufficient to complete the testing ordered. We actually prefer buccal brush specimens for all but a few of our tests because they are more easily processed by the lab. There are a few tests for which we require blood, however. These are: ACTA1 (Nemaline Myopathy), AR (androgen insensitivity syndrome), COMP (multiple epiphyseal dysplasia), EDA1 (X-linked hypohidrotic ectodermal dysplasia), GCH1 (dopa-responsive dystonia), Holoprosencephaly panel: SHH, SIX3, TGIF, ZIC2 (Holoprosencephaly) and PTCH (Gorlin syndrome). For ELA2 testing (Congenital or Cyclic Neutropenia), blood samples are preferable over buccal brushes.
