Genetic analysis for mutations in the SCN5A gene (associated with cardiac ion channel function)
This test checks for specific genetic changes in the SCN5A gene, which plays a role in how your heart muscle cells work. These changes may be linked to certain heart rhythm disorders or other cardiac conditions.
["This test helps identify inherited genetic variations that could affect heart function."]
Key facts at a glance
- LOINC
- 81872-4
- Short code
- SCN5A gene Fam Mut Anl Bld/T
- Synonyms
- SCN5A gene Fam 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 a family history of heart rhythm problems (such as long QT syndrome), unexplained heart palpitations, or symptoms like fainting or sudden cardiac events. It may also be used in genetic counseling for conditions linked to SCN5A mutations.
What to Expect Before the Test
No special preparation is needed for this test. You’ll likely provide a blood sample, which is drawn from a vein in your arm. If genetic testing is part of a broader evaluation, your provider will explain the process in detail.
What the Results Mean
Results will show whether you have any known mutations in the SCN5A gene. If mutations are found, they may explain your symptoms or help guide treatment decisions. If no mutations are detected, it doesn’t rule out other possible causes of your condition.
Common Conditions Linked to SCN5A Mutations
Mutations in SCN5A are associated with conditions like long QT syndrome, Brugada syndrome, and certain types of heart block. These can affect how electrical signals travel through your heart, potentially leading to abnormal heart rhythms or sudden cardiac events.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying SCN5A mutations can help doctors confirm a suspected genetic heart condition, tailor treatment plans (such as medications or lifestyle changes), and provide genetic counseling for family members who may be at risk. Early detection can improve outcomes and reduce risks of serious complications.
Short name
SCN5A Gene Mutation Test
Frequently asked questions
What does a positive result mean?
Will this test affect my insurance or ability to work?
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