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SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test

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SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test

Short Name: SCN4A PAM NGS

Also known as: SCN4A PAM NGS Test, Potassium-Aggravated Myotonia Genetic Test, SCN4A Gene Sequencing

SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are usually available within 3 to 4 weeks after the sample is received in the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

This test is performed to confirm the diagnosis of potassium-aggravated myotonia, identify SCN4A gene mutations, guide treatment and management, and assist in family planning and genetic counseling.

Test Code
4484
CPT Code
81479
ICD Code
G71.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are usually available within 3 to 4 weeks after the sample is received in the laboratory.
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger Sequencing for variant confirmation
Step 1

Sample Collection

A genetic counselling session to draw a pedigree chart of family members affected with SCN4A gene potassium-aggravated myotonia is recommended. No fasting is required. Inform your clinician about any medications being taken.

Method: Peripheral blood draw or FTA card blood spot

Step 2

Laboratory Analysis

Standard blood sample collection or FTA card blood spot collection is performed. The procedure is quick and minimally invasive.

Step 3

Report Delivery

The sample is transported to the laboratory for NGS analysis. Reports are available in 3 to 4 weeks. Post-test genetic counselling is recommended to understand the implications of the results.

Timeline: Reports are usually available within 3 to 4 weeks after the sample is received in the laboratory.

Patient Instructions

1
Before the Test:A genetic counselling session to draw a pedigree chart of family members affected with SCN4A gene potassium-aggravated myotonia is recommended. No fasting required.
2
During the Test:A blood sample or FTA card sample will be collected. The procedure is quick and usually painless.
3
After the Test:You may resume normal activities immediately. The sample will be analyzed and results will be provided in 3 to 4 weeks.

About This Test

Who Should Get This Test

This test is performed to confirm the diagnosis of potassium-aggravated myotonia, identify SCN4A gene mutations, guide treatment and management, and assist in family planning and genetic counseling.

How to Prepare

  • Please bring a government-issued ID for verification.
  • If using home collection, ensure the phlebotomist follows safety protocols.
  • For FTA card, let the blood spot air-dry completely before sealing.
  • Do not shake the blood tube; handle gently.

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"For patients with suspected inherited myopathies, genetic confirmation is essential for accurate family counselling and reproductive planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml blood or 1 drop on FTA card (as required)
ContainerEDTA vacutainer / FTA card / DNA vial
Collection MethodPeripheral blood draw or FTA card blood spot

Sample Stability

Whole blood (EDTA)
Extracted DNA
FTA card blood spot
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • Insufficient sample quantity
  • Degraded DNA
  • Mislabeled or unlabeled sample

Understanding Your Results

The test results should be interpreted by a clinical geneticist in the context of the patient's clinical history, family pedigree, and other laboratory findings.
Identify sequence variants in the SCN4A gene (coding regions and splice sites).
Classify variants as pathogenic, likely pathogenic, VUS, likely benign, or benign following ACMG guidelines.
Correlate variant status with patient's symptoms and family history.
Recommend targeted testing of family members if a pathogenic variant is identified.
Provide risk assessment and genetic counselling for at-risk relatives.
⚠️ When to Consult a Doctor:

Consult your doctor if you experience muscle stiffness or weakness, especially in cold temperatures or after exercise, or if you have a family history of myotonia or periodic paralysis.

Limitations

  • ⚠May not detect non-coding or deep intronic variants
  • ⚠May not detect large gene deletions or duplications
  • ⚠Variants of uncertain significance require further testing
  • ⚠Clinical correlation with symptoms and family history is necessary

Risks & Considerations

  • ●Minimal risk of bleeding or hematoma at blood draw site
  • ●Finger stick or FTA card may cause brief discomfort
  • ●No significant health risks are associated with this test

Interfering Factors

  • ●Low-quality or degraded DNA sample
  • ●Contamination during sample collection
  • ●Medications affecting muscle tone may not influence DNA test but could affect clinical evaluation
  • ●Sample mix-up or mislabeling

Compare With Similar Tests

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Frequently Asked Questions

What is potassium-aggravated myotonia (PAM)?
Potassium-aggravated myotonia (PAM) is a genetic muscle disorder caused by mutations in the SCN4A gene. It leads to muscle stiffness that is made worse by high potassium intake, cold weather, or periods of rest after exercise. Symptoms can range from mild to severe and may include muscle cramping and weakness.
How is the SCN4A NGS genetic test different from targeted mutation testing?
The NGS-based test sequences the entire coding region of the SCN4A gene, allowing identification of known and novel mutations. Targeted mutation testing only looks for a specific known variant, which is usually only useful when a family member has already been identified with that variant.
What is the cost of the SCN4A gene test at DNA Labs India?
The cost of the SCN4A Gene Potassium-aggravated myotonia NGS Genetic Test is INR 20,000. This includes sample collection (free home collection available), processing, analysis, and a comprehensive clinical report.
What type of sample is required for this test?
The test can be performed on blood (EDTA), extracted DNA, or a single drop of blood on an FTA card. The preferred sample type may be discussed during booking.
Is fasting required for the SCN4A NGS genetic test?
No, fasting is not required for this genetic test. You can eat and drink normally before providing your sample.
How long does it take to get the report?
The test results are typically available within 3 to 4 weeks from the time the sample is received in the laboratory.
Will this test detect all types of SCN4A mutations?
NGS analysis of the SCN4A coding region will detect single nucleotide variants, small insertions and deletions, and splice-site mutations. It may not detect very large deletions or duplications or deep intronic mutations; further testing may be required if clinical suspicion remains high.
Can this test differentiate PAM from paramyotonia congenita or hyperkalemic periodic paralysis?
Yes, because mutations in SCN4A can cause a spectrum of disorders, the test report will indicate the specific variant and its known phenotype correlation. This helps distinguish between potassium-aggravated myotonia, paramyotonia congenita, and hyperkalemic periodic paralysis based on the exact mutation and clinical correlation.
What does a 'variant of uncertain significance' (VUS) mean?
A VUS is a genetic change whose clinical significance is not yet fully understood. It may be a normal polymorphism or a disease-causing mutation. Additional family studies and further research may be needed to reclassify the variant. Genetic counselling is recommended to understand the implications of a VUS.
Can this test be used for family planning or prenatal diagnosis?
Yes, if a pathogenic mutation is identified, the information can be used for genetic counselling and to assess the risk of passing the condition to offspring. Prenatal testing (e.g., chorionic villus sampling or amniocentesis) can also be planned using the validated mutation. This is best discussed with your genetic counselor.
Why is genetic counseling recommended before and after this test?
Pre-test counseling helps draw a pedigree, understand the inheritance pattern, and clarify the test's implications. Post-test counseling helps interpret the results, discuss reproductive options, and provide emotional and psychological support.
Does DNA Labs India provide raw data files like FASTQ and VCF?
Yes, DNA Labs India is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report. This allows researchers or other specialists to reanalyze the data if needed.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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