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Genetic mutation screening for Gaucher disease (Lysosomal Acid β-Glucosidase Deficiency)

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

This test checks for genetic mutations linked to Gaucher disease, a rare genetic disorder affecting how your body breaks down certain fats. It may be used if you have symptoms or a family history of the condition.

Quick summary

["Gaucher disease mutations can affect fat metabolism and may require genetic counseling or treatment options."]

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

Key facts at a glance

LOINC
22073-1
Short code
Gau1 gene Mut Anl Bld/T
Synonyms
Gau1 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 Might Be Ordered

Your healthcare provider may recommend this test if you have symptoms like organ swelling, anemia, or nerve problems, or if you have a family history of Gaucher disease. It’s also used for prenatal screening or carrier testing in certain situations.

What to Expect Before the Test

You’ll typically provide a blood sample, which is drawn from a vein in your arm. No special preparation is needed, but fasting may be advised depending on your provider’s instructions.

What the Test Measures

The test looks for specific genetic mutations in the GBA gene, which encodes the enzyme needed to break down a fatty substance called glucocerebroside. Mutations can lead to Gaucher disease.

How Results Are Interpreted

Results are reviewed by a genetic specialist. Positive findings indicate a mutation associated with Gaucher disease risk, while negative results mean no such mutation was detected in this sample.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Gaucher disease mutation blood test

Frequently asked questions

If you have Gaucher disease mutations, your provider may recommend genetic counseling, monitoring for symptoms, or treatment options like enzyme replacement therapy or stem cell transplantation.
This test helps identify if you carry a mutation linked to Gaucher disease, which can guide family planning decisions or early management strategies.
What does a positive result mean?
A positive result means you have a genetic mutation associated with Gaucher disease risk. This may require further evaluation by a genetic counselor or specialist to assess your health needs.
Can this test detect all types of Gaucher disease?
This test focuses on specific mutations linked to Gaucher disease. Other diagnostic methods, like enzyme activity tests or clinical symptoms, may be needed for a full evaluation.
  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