Genetic mutation analysis for EPM2A gene (Lysosomal Acid Lipase Deficiency)
This test checks for mutations in the EPM2A gene, which may be linked to lysosomal acid lipase deficiency—a condition affecting fat metabolism and potentially causing liver disease or other health issues.
["This test helps diagnose genetic conditions that could impact your liver or other organs."]
Key facts at a glance
- LOINC
- 39080-7
- Short code
- EPM2A gene Mut Anl Bld/T
- Synonyms
- EPM2A 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 EPM2A gene mutation test identifies changes (mutations) in the genetic code of the EPM2A gene. These mutations can affect how your body produces lysosomal acid lipase, an enzyme involved in breaking down fats. Variations in this enzyme can lead to lysosomal acid lipase deficiency, which may cause symptoms like liver problems or other metabolic issues.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms like unexplained liver issues, fatty liver disease, or a family history of similar genetic conditions. It’s also used in genetic counseling or when evaluating individuals with suspected lysosomal acid lipase deficiency.
Sample Collection and Process
A blood sample is typically taken from a vein in your arm. The sample is sent to a lab for genetic testing, where scientists analyze your DNA for EPM2A gene mutations using advanced techniques like next-generation sequencing.
What to Expect Before the Test
No special preparation is usually needed, but you may be asked to avoid certain medications or foods for a short time if instructed. Bring any relevant medical history or family health records to your appointment.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Mutations in the EPM2A gene can cause lysosomal acid lipase deficiency, which may lead to liver disease, fatty liver, or other metabolic complications. Early detection through genetic testing can help guide treatment options, support, or monitoring for affected individuals or their families.
Short name
EPM2A Gene Mutation Test
Frequently asked questions
What does a positive result mean?
What if my test result is negative?
How often should I get this test?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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