PMS2 Known Familial Mutation Analysis is available for adult family members when a mutation has been identified through PMS2 Gene Sequence Analysis or PMS2 Gene Deletion/Duplication Analysis performed in this laboratory. If mutation analysis was performed elsewhere, provide a copy of the report if available and write the specific familial mutation on the requisition.
Test Indications
- Targeted mutation analysis for known familial mutations in PMS2
OMIM #: 600259 276300 120435
Sample Requirements
- Adults: 5-7 mL whole blood in purple top EDTA tube
Sample Handling: Blood samples stored overnight should be refrigerated or kept cold. Blood samples should never be frozen. Specimens being sent from outside facilities should be packaged with a cold pack according to standard medical safety practices. The specimen should be shipped by overnight priority [scheduled to arrive by Friday AM at the latest].
Shipping Address: Center for Human Genetics Laboratory
10524 Euclid Ave, 6th Floor
Cleveland, OH 44106
216-983-1134
For local samples, please call the Center for Human Genetics Laboratory (216-983-1134) to arrange for sample pick-up.
Turn Around Time: 2 weeks
List price/CPT codes: $205.93 / 83890, 83898, 83894, 83904 (x2), 83909 (x2), 83912