Test Overview
Test Methodology
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
Test Usage
Second-tier test when newborn screening results with reduced beta-glucosidase (GBA) activity are identified
Diagnosis and monitoring of patients with Gaucher disease using whole blood specimens
Supporting the biochemical diagnosis of Gaucher disease
Monitoring a patient's response to treatment
Reference Range *
< or = 0.040 nmol/mL
* Reference ranges may change over time. Please refer to the original patient report when evaluating results.
Test Details
Days Set Up
Tuesday
Analytic Time
4 - 10 days
Soft Order Code
GPSYW
Laboratory
Sendout
Reference Laboratory
Mayo GPSYW
Section
Special Testing
Specimen Requirements
Collection Instructions
Collect specimen in an EDTA lav top tube. Send to Specimen Processing as whole blood refrigerated.
Alternate Specimen
Green top (sodium or lithium heparin) or ACD soln B
Contraindications
This test is not useful for identifying carriers of GBA variants.
Normal Volume
1 mL whole blood
Minimum Volume
0.25 mL whole blood
Storage Temperature
Refrigerated preferred, ambient acceptable
Additional Information
Test performed by Mayo Clinic Laboratories
Billing
CPT Code
82542