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Glutamate Aspartate Transaminase (AST) Genetic Mutation Screening (Blood)

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

This test checks for genetic variations in the enzyme responsible for processing certain amino acids in your body. These mutations may influence how your liver functions or increase risk for conditions like liver disease.

Quick summary

["Genetic mutations in AST can affect liver health and may raise risk for inherited disorders."]

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

Key facts at a glance

LOINC
101963-7
Short code
SLC1A4 gene Mut Anl Bld/T
Synonyms
SLC1A4 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 Does This Test Measure?

AST (also called transaminase) is an enzyme found in liver cells and heart muscle. Mutations in the gene encoding AST can alter enzyme function, potentially impacting metabolism or disease risk. This test specifically looks for specific genetic changes in the AST gene.

Why Might You Need This Test?

You may be referred for this test if you have a family history of liver disease, genetic conditions linked to AST mutations, or if symptoms like fatigue, jaundice, or unexplained liver issues are present.

Sample Collection and Preparation

A blood sample will be drawn from a vein in your arm. The sample is processed to isolate DNA for genetic analysis. Results are typically available within 1–2 weeks.

What to Expect Before the Test

No special preparation is needed, but avoid alcohol for 48 hours before testing if you have liver-related symptoms.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: Genetic AST mutations may contribute to inherited liver disorders, metabolic dysfunctions, or increased susceptibility to certain conditions. Early detection can guide prevention or management strategies.

Short name

AST Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a known AST gene mutation. This may increase your risk for liver disease or other metabolic conditions, but further evaluation by a healthcare provider is needed to assess implications.
Will this test affect my treatment?
This test may help tailor genetic counseling or monitoring, but treatment decisions depend on overall health and additional clinical findings. Always discuss results with your doctor.
Can I get this test if I’m pregnant?
Yes, this genetic test can be performed during pregnancy if recommended by your healthcare provider. Results should be interpreted in the context of your pregnancy and overall health.
  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