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Lab Test Dictionary

Gaucher Disease, Full Gene Analysis, (GBAZ)


Polymerase Chain Reaction (PCR) Analysis


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


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.


Insurance authorization is required prior to draw for outpatients. Ok to send on inpatients.

CPT Codes