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
Synonyms
    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
    NY State Approved
    No