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SCN4A Gene Hyperkalemic periodic paralysis NGS Genetic Test

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SCN4A Gene Hyperkalemic periodic paralysis NGS Genetic Test

Short Name: SCN4A NGS Test

Also known as: SCN4A Gene Mutation Test, Hyperkalemic Periodic Paralysis NGS Panel, SCN4A Sequencing Test

SCN4A Gene Hyperkalemic periodic paralysis 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 Reports are delivered in 3 to 4 weeks after the laboratory receives the sample.. 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

To identify disease-causing pathogenic variants in the SCN4A gene and confirm a clinical diagnosis of hyperkalemic periodic paralysis. This supports appropriate management, recurrence-risk assessment, and genetic counselling for affected families.

Test Code
4146
ICD Code
G72.3
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered in 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please carry any previous medical records, prescriptions, or electromyography reports if available. A genetic counsellor may contact you to collect clinical history and draw a family pedigree chart.

Method: Venipuncture / FTA Card Blood Spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample from a vein in your arm, or one drop of blood will be placed on an FTA card. The collection procedure takes only a few minutes.

Step 3

Report Delivery

You may resume your normal daily activities immediately. The sample will be transported to the genomics laboratory for NGS analysis.

Timeline: Reports are delivered in 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No fasting is required. Please carry any previous medical records, prescriptions, or electromyography reports if available. A genetic counsellor may contact you to collect clinical history and draw a family pedigree chart.
2
During the Test:A trained phlebotomist will collect a small blood sample from a vein in your arm, or one drop of blood will be placed on an FTA card. The collection procedure takes only a few minutes.
3
After the Test:You may resume your normal daily activities immediately. The sample will be transported to the genomics laboratory for NGS analysis.

About This Test

Who Should Get This Test

To identify disease-causing pathogenic variants in the SCN4A gene and confirm a clinical diagnosis of hyperkalemic periodic paralysis. This supports appropriate management, recurrence-risk assessment, and genetic counselling for affected families.

How to Prepare

  • No special dietary preparation or fasting is needed.
  • Provide the complete clinical history and family pedigree if available.
  • Inform the referring doctor about any potassium-altering medications or supplements.
  • Ensure the sample vial or FTA card is correctly labelled with your name and patient ID.

Doctor's Notes

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

"Genetic confirmation is essential to distinguish hyperkalemic periodic paralysis from other ion-channel disorders. I advise patients to have the test interpreted in the context of clinical and family history."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL blood or one FTA card spot
ContainerEDTA vacutainer / FTA Card
Collection MethodVenipuncture / FTA Card Blood Spot

Sample Stability

EDTA blood: 24 hours at room temperature, 72 hours at 2-8°C
FTA card blood spot: stable at room temperature for several weeks
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Clotted or severely hemolysed blood
  • Incorrectly labelled or unlabelled sample
  • Inadequate sample volume
  • Leaking or expired collection tube
  • FTA card packed before drying

Understanding Your Results

This test detects pathogenic variants in the SCN4A gene associated with hyperkalemic periodic paralysis. A positive result confirms the genetic diagnosis in a clinically affected person. A negative result does not exclude the diagnosis, and variants of uncertain significance need further evaluation.
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⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you have recurrent episodes of weakness or paralysis, muscle stiffness triggered by potassium-rich foods, or a family history of periodic paralysis. Genetic results should always be discussed with a qualified doctor before treatment decisions are made.

Limitations

  • ⚠NGS may not detect large exon-level deletions or duplications reliably without additional methods
  • ⚠Variants in non-coding regulatory regions or deep intronic regions may not be covered
  • ⚠A negative result does not completely exclude hyperkalemic periodic paralysis
  • ⚠Variants of uncertain significance may require family segregation analysis
  • ⚠Result should be interpreted along with clinical evaluation and potassium studies

Risks & Considerations

  • ●Mild pain or bruising at the needle site
  • ●Dizziness during blood collection, rare
  • ●No significant medical risk from FTA card collection
  • ●Potential psychological impact of genetic results

Interfering Factors

  • ●Severe hemolysis or clotted blood sample
  • ●DNA degradation due to improper storage or transport
  • ●Very low DNA yield
  • ●Contamination during sample collection
  • ●Sample mix-up or mislabeling

Compare With Similar Tests

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Frequently Asked Questions

What is the SCN4A gene hyperkalemic periodic paralysis NGS genetic test?
This test uses next-generation sequencing to search for disease-causing variants in the SCN4A gene. SCN4A encodes a sodium channel in skeletal muscle. Pathogenic variants are associated with hyperkalemic periodic paralysis. It is performed on blood or extracted DNA and costs INR 20,000 at DNA Labs India.
What are the symptoms of hyperkalemic periodic paralysis?
The most common symptoms are repeated attacks of muscle weakness or paralysis, often after rest following exercise. Muscle stiffness, cramping, twitching, difficulty walking, and in severe episodes, difficulty swallowing or breathing can occur. Triggers include fasting, stress, cold, and potassium-rich foods.
How much does the SCN4A NGS genetic test cost?
The test costs INR 20,000 at DNA Labs India. This includes home sample collection in many Indian cities, a genetic counselling session, NGS sequencing, a clinical report, and raw data files such as FASTQ and VCF.
What sample is needed for this test?
The test can be done using blood, extracted DNA, or one drop of blood on an FTA card. A blood sample is usually collected by a phlebotomist. No fasting is required.
How long will the report take?
Reports are issued in 3 to 4 weeks after the laboratory receives the sample. The sample is processed with NGS, followed by variant analysis and clinical interpretation.
Who should consider this test?
People with episodes of unexplained muscle weakness or paralysis, a known family history of hyperkalemic periodic paralysis, or clinical features of myotonia may be considered. It is also useful to distinguish hyperkalemic periodic paralysis from other periodic paralyses.
What does a positive test result mean?
A positive result means a pathogenic or likely pathogenic variant in SCN4A was found. It confirms the diagnosis in a clinically affected person and supports autosomal dominant inheritance. Genetic counselling is recommended for the whole family.
What does a negative test result mean?
A negative result means no pathogenic SCN4A variant was identified in the tested sample. It does not exclude hyperkalemic periodic paralysis completely, as variants may exist in regions not covered by this assay or in other genes. Clinical correlation is essential.
Is genetic counselling included in the test?
Yes. A genetic counselling session is part of the service to document clinical history, draw a pedigree chart of family members, and explain the benefits, limitations, and implications of the test result.
Does DNA Labs India provide raw data files?
Yes. DNA Labs India is transparent and provides Raw Data, FASTQ, and VCF files along with the conclusive clinical report for this test at no additional cost.
Can the test be done at home?
Yes, home sample collection is available for online bookings across multiple cities in India. A trained phlebotomist will visit your home to collect the sample.
How is hyperkalemic periodic paralysis treated?
Treatment focuses on avoiding triggers and managing acute attacks. Common measures include regular carbohydrate intake and avoiding fasting. Medications such as thiazide diuretics or carbonic anhydrase inhibitors may be used; breathing or swallowing involvement requires urgent medical care. Management should be planned with the treating physician.
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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