Skip to content

Genetic Mutation Analysis for Gaucher Disease (Lysosomal Acid β-Glucosidase Activity)

Published: August 9, 2026Updated: August 16, 2026

This test measures the activity level of an enzyme called lysosomal acid β-glucosidase in your blood. It helps determine if you have Gaucher disease, a rare genetic disorder caused by mutations in this enzyme.

Quick summary

["This test helps diagnose or monitor Gaucher disease by checking enzyme function in your blood."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
22071-5
Short code
Gau3 gene Mut Anl Bld/T
Synonyms
Gau3 gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
Specimen volume
3 mL
Stability
Room temperature: 4h, Refrigerated: 24h
Hemolysis max
0
Lipemia max
0
Icterus max
0
TAT
4–24 hours
Order
routine

Why This Test Is Done

Your healthcare provider may order this test if you have symptoms of Gaucher disease, such as organ enlargement, anemia, or nerve problems. It may also be used to confirm a suspected diagnosis or check how well treatment is working.

What to Expect Before the Test

You’ll typically have a small blood sample drawn from your arm. No special preparation is needed, but inform your provider about any medications you’re taking, as they may affect results.

What the Test Results Mean

Lower-than-normal enzyme activity may indicate Gaucher disease. Results are compared to a reference range for healthy individuals, but exact values can vary by lab. Discuss your results with your provider for personalized interpretation.

Common Causes or Related Conditions

Gaucher disease is caused by mutations in the *GLB1* gene, which affects the enzyme’s ability to function properly. Other lysosomal storage disorders may also involve similar enzyme deficiencies.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: Gaucher Disease Mutation Analysis

Short name

Gaucher Disease Mutation Blood Test

Frequently asked questions

How is this test performed?
The test involves collecting a blood sample, which is then analyzed to measure enzyme activity. The method may include enzymatic assays or genetic testing to detect mutations linked to Gaucher disease.
What does an abnormal result mean?
An abnormal result suggests a possible genetic mutation linked to Gaucher disease. Further testing, such as genetic sequencing, may be needed to confirm the diagnosis and identify specific mutations.
Can this test be done at home?
No, this test requires a medical professional to collect a blood sample in a clinical setting. Home-based genetic testing for mutations is not the same as this enzyme activity test.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.

This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.

Medical Disclaimer

This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.

If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.

Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy