Genetic variant analysis (HGVSM)
This test identifies specific changes (mutations) in your DNA that may affect how certain genes function. It’s often used to diagnose inherited conditions, guide treatment plans, or assess risks for genetic disorders.
["Understanding your genetic mutations can help doctors tailor care to your unique health needs."]
Key facts at a glance
- LOINC
- 81303-0
- Short code
- HGVSVERSION
- Synonyms
- —
- Category
- chemistry
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of a genetic disorder, symptoms that suggest a genetic condition, or if you’re at higher risk for certain cancers or heart disease. It can also be used before pregnancy to check for inherited genetic risks.
How the Test Works
A small blood sample is taken to collect DNA. Advanced laboratory techniques analyze this DNA to detect known mutations linked to specific health conditions. Results are compared to reference genetic data to identify any variations.
What to Expect Before the Test
No special preparation is usually needed, but you may be asked to fast for 8–12 hours if the blood draw is part of a larger metabolic or genetic panel. Always follow your provider’s instructions.
What the Results Mean
Results can be categorized as normal (no mutations detected), variant of uncertain significance (needs further evaluation), or pathogenic (confirms a known genetic condition). Some results may require follow-up testing or genetic counseling.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
This test plays a critical role in personalized medicine by helping doctors identify genetic predispositions to diseases like cancer, heart conditions, or metabolic disorders. It can also guide decisions about preventive care, such as screenings or lifestyle changes.
Short name
Genetic Mutation Test
Frequently asked questions
What does a positive result mean for my health?
Will this test affect my insurance or ability to get health coverage?
Can I get this test if I don’t have symptoms?
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