Effective immediately, molecular testing for Myotonic Dystrophy, Prader-Willi syndrome and Angelman syndrome will be offered in the Molecular Pathology/Diagnostics laboratory. This laboratory is located within the Microbiology laboratory on sixth floor Boyd Tower (GH6004 BT). These tests were previously mailed out to a reference laboratory. For Prader-Willi and Angelman, the methylation detection method is used.
The requirements for any of these tests include; 10 ml. EDTA blood (lavender top) for adults, (5 ml. EDTA blood for pediatric patients), a properly completed Form 0-4 miscellaneous requisition with clinical history included and a family pedigree. The patient charges for these tests are less than the current mail-out rate and the result turnaround time is 2-3 weeks.
At the present time, none of these tests are available for prenatal specimens. Prenatal specimens should continue to be delivered to Specimen Control (6240 RCP) for mail-out.
Please contact Beth Alden (4-9568, Pathology) or Carol Johnson (6-7248, Genetics) if you have any questions.