SCN4A Gene Mutation Analysis, Blood
This test analyzes the SCN4A gene from a blood sample to look for genetic changes (mutations) that can affect muscle function.
["SCN4A testing can help identify a genetic cause for certain inherited muscle disorders."]
Key facts at a glance
- LOINC
- 58045-6
- Short code
- SCN4A gene Mut Anl Bld/T
- Synonyms
- SCN4A 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 Is the SCN4A Gene?
The SCN4A gene provides instructions for making a protein that forms a channel controlling the flow of sodium ions in skeletal muscle cells. This channel is essential for normal muscle contraction and relaxation.
Why Might This Test Be Ordered?
A healthcare provider may order SCN4A testing when a person has symptoms or a family history suggesting an inherited muscle condition, such as episodes of muscle weakness, stiffness, or abnormal muscle activity. Testing can help clarify the underlying cause.
How the Test Is Done
A blood sample is collected, usually from a vein in the arm. In the laboratory, the SCN4A gene is analyzed to look for specific changes in its DNA sequence. Results are interpreted alongside your symptoms and family history.
What the Results Can Mean
A result may show a genetic change that is known or suspected to cause a muscle disorder, a change of uncertain significance, or no relevant change. Because interpretation can be complex, results should be reviewed with a healthcare provider or genetic counselor.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
SCN4A mutations have been associated with certain inherited skeletal muscle channel disorders that can cause episodes of weakness, stiffness, or abnormal muscle relaxation. Identifying a genetic change can support diagnosis, guide management, and inform family screening, but results must always be interpreted in the context of clinical findings.
Short name
SCN4A Genetic Testing
Frequently asked questions
Does this test diagnose a muscle disorder on its own?
Is a blood sample the only specimen used?
Can a normal result rule out all muscle conditions?
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