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Test Code
GBA8
Test Name
Gaucher Disease, 8 Variants
CPT Codes
81251
Included Tests
  • Gaucher Disease (GBA), Allele 1
  • Gaucher Disease (GBA), Allele 2
Expected Turnaround Time
5 - 10 days
Clinical Utility

Carrier screening or diagnostic testing for Gaucher disease for individuals of Ashkenazi Jewish descent.
Specimen and Container Info

Specimen Type: Whole Blood

Collection Container: Lavender Top (EDTA)

Alternate Collection Container: Pale Yellow Top (ACD A or B) or Pink Top (EDTA)

Desired Specimen Volume: 3 mL
Collection Instructions
  1. Collect a lavender top (EDTA) tube via venipuncture.
  2. Fill tube to capacity.
Processing and Submission Instructions
  1. Transport 3 mL of whole blood in the original collection container.
  2. Submit a Gaucher Disease Testing Patient History Form with specimen for appropriate result interpretation.
Transport Instructions

Transport to the laboratory refrigerated. 
Stability Requirements

Room Temperature

72 hours

Refrigerated

7 days

Frozen

1 month
Causes for Rejection
  • Frozen specimens in glass collection tubes
Methodology
Polymerase Chain Reaction/Fluorescence Monitoring
Reference Intervals

 See patient report.
Alternate Names
  • Beta-glucocerebrosidase deficiency
  • Beta-Glucosidase
  • Gaucher Disease
Reference Lab
ARUP Laboratories
Testing Schedule
Varies
The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. View the Terms.
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