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Genetic mutation analysis for Gaucher disease (Lysosomal Acid β-Glucosidase Activity)

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

This test checks for genetic mutations linked to Gaucher disease, a rare disorder affecting how your body breaks down certain fats. It may be used to confirm a suspected diagnosis or assess risk in family members.

Quick summary

["This test helps identify genetic variations tied to Gaucher disease, guiding treatment and family screening decisions."]

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

Key facts at a glance

LOINC
22072-3
Short code
Gau2 gene Mut Anl Bld/T
Synonyms
Gau2 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

What This Test Measures

The test analyzes DNA from your blood sample to detect specific mutations in the *GBA* gene, which encodes the enzyme responsible for breaking down a particular fat called glucocerebroside. Mutations in this gene can lead to Gaucher disease, causing symptoms like organ enlargement or nerve damage.

Why It’s Done

Your healthcare provider may recommend this test if you have symptoms of Gaucher disease (e.g., abdominal pain, fatigue, or organ swelling) or if a family member has been diagnosed. It may also be used for prenatal testing or carrier screening in high-risk families.

Sample Collection and Process

A blood sample is drawn from your arm into a tube. The DNA is extracted from your white blood cells and analyzed for mutations using advanced genetic sequencing techniques.

What to Expect Before the Test

No special preparation is needed, but inform your provider about any medications, supplements, or recent illnesses that could affect results. Avoid strenuous activity 24 hours before the test.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Gaucher Disease Mutation Blood Test

Frequently asked questions

What does a positive result mean?
A positive result indicates you carry the specific mutations linked to Gaucher disease. This may require further evaluation by a genetic counselor or specialist to discuss management options, including monitoring for symptoms or preventive therapies.
Can this test detect all forms of Gaucher disease?
This test focuses on the most common mutations linked to Gaucher disease. Some rare variants may not be detected, so additional testing or genetic counseling may be recommended for comprehensive assessment.
Is this test covered by insurance?
Coverage depends on your insurance plan, diagnosis, and clinical indication. Check with your provider or insurance company to confirm coverage details before scheduling the 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