Methodology
Polymerase Chain Reaction (PCR) Analysis
Synonyms
Beta-glucocerebrosidase deficiency; GAUW; Beta-Glucosidase; Gaucher Disease
Specimen Type
Whole Blood
Performing Lab
Mayo Medical Lab
Epic ID
Other Reference Test
Lab Test Days
Tuesday; 10 A.M.
Standard TAT
9-12 Days
Collection Information
Specimen Required
0.5-2.6 mL Whole Blood
Container Type
Lavender (EDTA)
Collection Instructions
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.**
Processing Information - Lab Use Only
Transport Temperature
Ambient-Only
Specimen Stability
Room Temp: 96 Hours; Refrigerated: Unacceptable; Frozen: Unacceptable
Test Volume Required
2.6 mL Whole Blood
Minimum Test Volume
0.5 mL Whole Blood
Processing Instructions
Order in Mayolink and submit a completed Congenital Inherited Disease Patient Info form with specimen room temp. Mayo courier will pick up Monday-Friday.
Included Tests
Mutations tested for include N370S, IVS2( 1)G->A, 84GG, R496H, L444P, delta55bp, V394L and D409H.
Comments
Insurance authorization is required prior to draw for outpatients. Ok to send on inpatients.
CPT Codes
81479
Revised
09/21/23
Initials
SL