Skip to main content
DNA Labs India

SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test

Short Name: SCN4A PMC NGS Test

Also known as: SCN4A Paramyotonia Congenita Genetic Test, SCN4A Gene Mutation Analysis, Paramyotonia Congenita NGS Test

SCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger confirmation of clinically significant variants on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The report will be available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.

GeneticChildren and adults; carrier testing for at-risk adults🏠 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 aims to identify disease-causing variants in the SCN4A gene to confirm or exclude Paramyotonia congenita of von Eulenburg, support genetic counselling, and inform reproductive and management decisions.

Test Code
4440
ICD Code
G71.19
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
The report will be available within 3 to 4 weeks after the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger confirmation of clinically significant variants
Step 1

Sample Collection

No special preparation such as fasting is required. A genetic counselling session is strongly recommended before the test so that a three-generation family pedigree can be recorded. Please carry previous medical records, neurological examination findings and family history details.

Method: Venipuncture / FTA card blood spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a small blood sample from your arm, or a finger-prick blood spot on an FTA card may be done at home. The procedure is quick and minor discomfort may be felt at the collection site.

Step 3

Report Delivery

You can resume normal daily activities immediately. The sample is labelled and transported to the laboratory under controlled conditions. Results are typically delivered in 3 to 4 weeks.

Timeline: The report will be available within 3 to 4 weeks after the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting required. Please complete a genetic counselling session and bring all relevant clinical history, family history and prior neurological reports to the sample collection appointment.
2
During the Test:A small blood sample or FTA card spot will be collected. The procedure takes less than 5 minutes and is associated with minimal discomfort.
3
After the Test:You may return to your routine immediately. The laboratory will process your sample using NGS technology and your report will be shared securely within 3 to 4 weeks.

About This Test

Who Should Get This Test

This test aims to identify disease-causing variants in the SCN4A gene to confirm or exclude Paramyotonia congenita of von Eulenburg, support genetic counselling, and inform reproductive and management decisions.

How to Prepare

  • No fasting required
  • Complete the genetic counselling and consent process before sample collection
  • Carry your doctor's referral and previous test reports, if available
  • Ensure the FTA card is dried and kept in the provided protective sleeve
  • Verify the patient's name and date of birth on the sample label

Doctor's Notes

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

"In patients with cold-provoked myotonia and episodic weakness, targeted SCN4A sequencing helps guide management and family counseling."

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 whole blood / one spot on FTA card / extracted DNA as per protocol
ContainerEDTA vacutainer / DNA vial / FTA card
Collection MethodVenipuncture / FTA card blood spot

Sample Stability

Whole blood in EDTA72 hours
FTA card blood spotStable for several months when dry
Extracted DNAUp to 6 months
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Frozen whole blood
  • Wet, moldy or contaminated FTA card
  • Improperly labelled sample
  • Sample without completed consent and requisition form

Understanding Your Results

This test is not a standalone diagnostic tool. The clinical significance of each identified variant is evaluated using ACMG/AMP guidelines and correlated with your symptoms and family history.
📊

Confirms the clinical diagnosis of SCN4A-related Paramyotonia congenita in the appropriate clinical context.

Action: Genetic counselling, family testing and symptomatic management are recommended.

Result type: Pathogenic variant detected

📊

Variant is highly likely to be disease-causing; functional and family segregation studies may help.

Action: Consider clinical correlation, segregation testing and specialist follow-up.

Result type: Likely pathogenic variant detected

📊

Variant cannot be classified as benign or disease-causing at present.

Action: Additional family studies and clinical correlation are needed before altering management.

Result type: Variant of uncertain significance

📊

No clinically significant SCN4A variant identified; does not exclude all inherited myotonia.

Action: Multi-gene channelopathy panel or further neurological assessment may be considered.

Result type: No pathogenic variant detected

⚠️ When to Consult a Doctor:

If you or a family member experience unexplained muscle stiffness brought on by cold or exercise, difficulty releasing a grip, or episodes of muscle weakness, consult a neurologist for clinical evaluation and genetic testing.

Limitations

  • ⚠NGS may not detect large deletions/duplications, deep intronic variants, trinucleotide repeat expansions, or methylation defects
  • ⚠A negative result does not exclude all genetic causes of myotonia
  • ⚠Variants of uncertain significance may require additional family studies
  • ⚠Genetic testing is not a substitute for clinical and neurological evaluation
  • ⚠Pre-symptomatic testing in minors should be guided by clinical actionability and ethical standards

Risks & Considerations

  • ●Minor pain or bruising at the venipuncture site
  • ●Rare possibility of dizziness or fainting during blood collection
  • ●No significant medical risk associated with FTA card sample collection

Interfering Factors

  • ●Allogeneic bone marrow transplantation leading to mixed donor and recipient DNA
  • ●Recent blood transfusion from another individual
  • ●Insufficient or degraded DNA
  • ●Improper sample labelling
  • ●FTA card contamination or wet shipment

Compare With Similar Tests

TestSCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test
ComparisonSCN4A Gene Paramyotonia congenita of von Eulenburg NGS Genetic Test

Frequently Asked Questions

What is Paramyotonia congenita of von Eulenburg?
It is a rare inherited muscle disorder characterized by muscle stiffness and weakness that worsens with cold exposure or prolonged exercise. It is caused by pathogenic variants in the SCN4A gene.
How is this condition inherited?
It follows an autosomal dominant inheritance pattern. A child of an affected parent has a 50% chance of inheriting the SCN4A variant. Some cases may also arise as new de novo variants.
What does the SCN4A NGS genetic test do?
The test uses next-generation sequencing to read the coding regions and splice sites of the SCN4A gene and identify mutations that may cause Paramyotonia congenita.
How much does the test cost in India?
The cost at DNA Labs India is Rs 20000.0 / INR 20,000. This includes free home sample collection for online bookings across major cities in India.
What sample types are accepted?
Whole blood in an EDTA tube, extracted DNA, or one drop of blood on an FTA card can be used for this test.
Is fasting necessary?
No, fasting is not required. The test can be done at any time of the day.
How long will the report take?
Reports are delivered within 3 to 4 weeks from the date the sample reaches the laboratory.
Do I need genetic counselling before the test?
Yes, genetic counselling is strongly recommended before testing. It helps draw a family pedigree, understand the benefits and limitations, and provide informed consent.
Who should consider this SCN4A genetic test?
Patients with clinical features suggestive of paramyotonia, atypical myotonia or episodic weakness, and family members of confirmed patients who want to clarify their risk.
What does a positive result mean?
A pathogenic or likely pathogenic variant in SCN4A confirms the clinical diagnosis. A clinical geneticist or neurologist will provide interpretation and management recommendations.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for online bookings in multiple cities. A trained professional will collect the sample at your home.
Are there any limitations to the SCN4A NGS test?
NGS does not reliably detect certain large deletions or duplications, deep intronic variants or epigenetic changes. A negative result does not exclude all genetic causes, and additional gene panel or clinical evaluation may be considered if suspicion remains.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.