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Genetic Mutation Analysis of SCN5A Gene (Whole Blood)

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

This test checks for mutations in the SCN5A gene, which is linked to certain heart rhythm disorders. It involves analyzing DNA from your blood.

Quick summary

["This test helps identify genetic changes that may affect heart function."]

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

Key facts at a glance

LOINC
55139-0
Short code
SCN5A gene Mut Anl Bld/T
Synonyms
SCN5A 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 a family history of heart rhythm problems (such as long QT syndrome), unexplained heart palpitations, or symptoms like fainting or dizziness. It could also be used if you’re considering genetic counseling or testing for inherited conditions.

What to Expect Before the Test

No special preparation is needed. You’ll provide a small blood sample, usually drawn from your arm. This is a standard procedure and may cause mild discomfort for a few minutes.

What the Results Mean

Results can be either normal (no mutations detected) or abnormal (mutations found). Abnormal results may indicate a higher risk for heart-related conditions. Results will be reviewed by a genetic counselor or healthcare provider to interpret their significance.

How Results Are Used

If mutations are found, your provider may recommend further monitoring, lifestyle adjustments, or medications to manage symptoms. Genetic counseling can also help explain risks to family members.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance: Understanding SCN5A Mutations

Short name

SCN5A Gene Mutation Test

Frequently asked questions

What does SCN5A stand for?
SCN5A is the gene that encodes the sodium channel protein alpha subunit 5, which plays a critical role in heart electrical activity. Mutations in this gene can disrupt normal heart rhythms and may lead to conditions like long QT syndrome, sudden cardiac death syndrome, or other cardiac arrhythmias.
How accurate is this test?
This test is highly accurate for detecting known mutations in the SCN5A gene. However, it may not identify all possible mutations or variants of unknown significance. False positives or negatives are rare but possible.
Can this test be done at home?
No, this test requires a laboratory setting and a blood sample collected by a healthcare professional. Genetic testing is typically done in a clinical or genetic counseling office.
  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