SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic Test
Short Name: SCN4A NGS Genetic Test
Also known as: SCN4A Gene Sequencing, Myasthenic Syndrome Genetic Test, SCN4A Mutation Analysis, SCN4A NGS Panel
SCN4A Gene Myasthenic syndrome due to mutation in SCN4A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The test results are typically delivered within 3 to 4 weeks from sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic mutations in the SCN4A gene that are associated with myasthenic syndrome due to SCN4A mutations. Testing is used to confirm a clinical diagnosis, differentiate from other congenital myasthenic syndromes, support family screening, and guide therapeutic management. The test also provides essential information for genetic counseling regarding inheritance patterns and recurrence risks.
- Test Code
- 4367
- CPT Code
- 81406
- ICD Code
- G72.89
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The test results are typically delivered within 3 to 4 weeks from sample receipt.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No fasting is required. The patient should bring any previous medical records and family history documentation. A genetic counseling session is recommended before the test to draw a pedigree chart of family members affected with SCN4A-related disorders.
Method: Venipuncture or DNA extraction or finger prick on FTA card
Laboratory Analysis
Peripheral blood is drawn under sterile conditions by a trained phlebotomist. If FTA card is used, a small drop of blood is applied. For DNA extraction, the sample is collected in an EDTA tube.
Report Delivery
The sample is transported to the laboratory at ambient temperature. Results are typically available within 3-4 weeks. The patient may receive genetic counseling to understand the results and their implications.
Timeline: The test results are typically delivered within 3 to 4 weeks from sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the SCN4A gene that are associated with myasthenic syndrome due to SCN4A mutations. Testing is used to confirm a clinical diagnosis, differentiate from other congenital myasthenic syndromes, support family screening, and guide therapeutic management. The test also provides essential information for genetic counseling regarding inheritance patterns and recurrence risks.
How to Prepare
- Use sterile EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood in each indicated circle
- Extracted DNA samples should be accompanied by exact concentration and purity metrics
- Label the sample with patient name, date of birth, and collection date
- Transport at room temperature in appropriate packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counseling is recommended before and after testing to interpret the clinical significance of SCN4A variants and guide family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted or mislabeled sample
- Insufficient quantity of extracted DNA (less than 1 µg)
- Improper storage during transport (extreme heat or freezing of blood)
Understanding Your Results
Pathogenic or Likely Pathogenic variant detected
Support for diagnosis of SCN4A gene myasthenic syndrome. Clinical correlation is required.
Recommendation: Genetic counseling and targeted management including sodium channel blockers if indicated.
Variant of Uncertain Significance (VUS)
A DNA change was found, but its disease-causing effect is not currently known.
Recommendation: Familial segregation analysis, further functional studies, and clinical follow-up.
No pathogenic variant detected
No disease-causing mutation identified in the SCN4A gene.
Recommendation: Consider other genes or alternative diagnoses; clinical correlation and further testing may be needed.
Consult a clinical geneticist or neurologist if you or a family member exhibit symptoms such as muscle weakness, fatigue, difficulty swallowing, breathing difficulties, or if you have a known family history of SCN4A mutations or myasthenic syndrome.
Limitations
- ⚠This test does not detect large chromosomal rearrangements, trinucleotide repeats, or mitochondrial mutations
- ⚠Variants in non-coding regulatory regions may not be identified by exon-focused NGS
- ⚠Negative results do not fully exclude the presence of an SCN4A mutation if the causative variant is in a region not covered
- ⚠Variant of uncertain significance may require further family segregation analysis
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Possibility of psychological stress due to unexpected genetic findings
- ●Potential detection of variants of uncertain significance leading to anxiety
Interfering Factors
- ●Poor sample quality or degraded DNA may affect NGS accuracy
- ●Contamination with other genetic material during sample collection
- ●Large deletions or duplications may not be detected by standard NGS sequencing
- ●Presence of pseudogenes or homologous sequences may interfere with variant calling
- ●Incomplete clinical history may limit interpretation of variants of unknown significance
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Frequently Asked Questions
What is the cost of the SCN4A gene myasthenic syndrome NGS genetic test?
What sample is required for the SCN4A NGS genetic test?
How long does the SCN4A gene sequencing test take to report?
Does DNA Labs India provide raw FASTQ and VCF files?
Is fasting required before the SCN4A genetic test?
Why is genetic counseling recommended for this test?
What does a positive SCN4A mutation test mean?
Can the SCN4A NGS test detect all types of mutations?
Are there any risks involved in this genetic test?
Can this test be done during pregnancy?
Do I need a doctor's prescription to book this test?
How is the SCN4A NGS test different from routine blood tests?
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