Polymerase Chain Reaction (PCR) Analysis
Beta-glucocerebrosidase deficiency; GAUW; Beta-Glucosidase; Gaucher Disease
Mayo Medical Lab
Other Reference Test
Tuesday; 10 A.M.
0.5-2.6 mL Whole Blood
Whole blood collected in an ACD Solution (yellow-top) tube is also acceptable. Physician must completed a Congenital Inherited Disease Patient Info form to submit with specimen to lab. **A previous bone marrow transplant from an allogenic donor will interfere with testing. Call Mayo Medical Laboratories for instructions for testing patients who have received a bone marrow transplant.**
Room Temp: 96 Hours; Refrigerated: Unacceptable; Frozen: Unacceptable
2.6 mL Whole Blood
0.5 mL Whole Blood
Order in Mayolink and submit a completed Congenital Inherited Disease Patient Info form with specimen room temp. Mayo courier will pick up Monday-Friday.
Mutations tested for include N370S, IVS2( 1)G->A, 84GG, R496H, L444P, delta55bp, V394L and D409H.
Insurance authorization is required prior to draw for outpatients. Ok to send on inpatients.