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CLCN1 Gene Myotonia congenita NGS Genetic Test

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CLCN1 Gene Myotonia congenita NGS Genetic Test

Short Name: CLCN1 NGS

Also known as: CLCN1 Gene Myotonia Congenita NGS Panel, Myotonia Congenita Genetic Test, CLCN1 Mutation Analysis

CLCN1 Gene Myotonia congenita 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 generally issued within 3 to 4 weeks from the date of sample receipt.. Free home collection in 300+ cities across India.

Diagnostic Genetic Testing🏠 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 ordered to confirm a clinical diagnosis of myotonia congenita, document the specific CLCN1 mutation for inheritance counselling, guide management decisions such as drug therapy and anaesthetic precautions, and offer the possibility of targeted testing in other family members.

Test Code
4390
CPT Code
81408
ICD Code
G71.1
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally issued within 3 to 4 weeks from the date of sample receipt.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please stay hydrated and allow 10 minutes for the blood draw. Carry a valid ID and any prior EMG or clinical reports if available.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample will be collected from a vein in your arm. All equipment is sterile and single-use. If you are using an FTA card, a simple finger prick blood spot is collected.

Step 3

Report Delivery

You may resume all daily activities immediately. Press the cotton swab over the puncture site for a few minutes to prevent bruising.

Timeline: Reports are generally issued within 3 to 4 weeks from the date of sample receipt.

Patient Instructions

1
Before the Test:No special preparation is required. Inform the genetic counsellor about any family history of muscle disease and prior genetic testing results.
2
During the Test:A blood sample is taken by venipuncture or a small finger prick for FTA card collection. The procedure takes only a few minutes.
3
After the Test:You can immediately return to your usual routine. The sample is shipped to the laboratory for NGS analysis. Reports are provided within 3 to 4 weeks.

About This Test

Who Should Get This Test

This test is ordered to confirm a clinical diagnosis of myotonia congenita, document the specific CLCN1 mutation for inheritance counselling, guide management decisions such as drug therapy and anaesthetic precautions, and offer the possibility of targeted testing in other family members.

How to Prepare

  • No fasting required
  • A signed consent must be obtained for genetic testing
  • Please provide relevant clinical history and family pedigree information
  • Free home sample collection is available for online bookings across major Indian cities

Doctor's Notes

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

"Genetic testing for myotonia congenita is valuable when a patient presents with painless muscle stiffness and delayed relaxation. Early confirmation allows informed family planning and tailored management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL EDTA blood / 1 FTA spot / 1-2 µg DNA
ContainerEDTA tube / DNA vial / FTA card
Collection MethodVenipuncture or Finger prick

Sample Stability

Whole blood (EDTA): 5-7 days at 2-8°C
Extracted DNA: Stable for 6 months at -20°C
FTA card blood spot: Stable for several months at room temperature
Sample Rejection Criteria:
  • Clotted blood sample
  • Haemolysed sample
  • Insufficient sample quantity
  • Mislabeled sample
  • Unaccompanied by signed consent form

Understanding Your Results

The CLCN1 gene NGS test provides a qualitative genotype result. The presence of a pathogenic or likely pathogenic variant in CLCN1 supports the molecular diagnosis of myotonia congenita, provided the clinical picture is consistent.
📊

Pathogenic variant detected

Molecularly confirms a diagnosis of myotonia congenita. Genetic counselling and family studies are recommended.

📊

Variant of Uncertain Significance (VUS)

The variant is not clearly linked to disease. Additional segregation studies in affected family members may help clarify risk.

📊

No pathogenic variant detected

Myotonia congenita cannot be fully excluded. Other genes such as SCN4A or other genetic causes may need evaluation.

⚠️ When to Consult a Doctor:

If you or a child have unexplained muscle stiffness, cramping, difficulty releasing a grip, muscle hypertrophy, myotonia on EMG, or a family history of myotonia congenita, consult a neurologist or clinical geneticist for evaluation.

Limitations

  • ⚠This test analyses CLCN1 gene only and does not evaluate other myotonia-related genes such as SCN4A
  • ⚠Negative result does not exclude myotonia congenita due to non-sequenced regions or epigenetic causes
  • ⚠Variants of uncertain significance may require additional family testing
  • ⚠Large copy number variants or repeat expansions are not reliably detected by standard NGS

Risks & Considerations

  • ●Minimal risk of bruising at the puncture site
  • ●Dizziness or fainting during the blood draw
  • ●Rare local infection with improper care

Interfering Factors

  • ●Low DNA quantity or degraded DNA
  • ●Heterozygous large deletions/duplications may not be detected by standard NGS
  • ●Contamination during sample collection
  • ●Very deep intronic variants that do not cause splicing abnormalities may be missed

Compare With Similar Tests

TestCLCN1 Gene Myotonia congenita NGS Genetic TestSCN4A Gene Myotonia NGS Genetic TestEMG (Electromyography)Serum Creatine Kinase (CK)
ComparisonCLCN1 Gene Myotonia congenita NGS Genetic Test

Frequently Asked Questions

What is the cost of the CLCN1 Gene Myotonia Congenita NGS Genetic Test?
The test costs INR 20,000, which includes laboratory fees, genetic counselling support, and report interpretation by a certified geneticist.
What sample is required for this test?
The test can be performed on blood (EDTA), extracted DNA, or one drop of blood on an FTA card. Free home sample collection is available in many cities.
Do I need to fast for the test?
No. Fasting is not required for this genetic test. You can eat and drink normally before sample collection.
How long will the report take?
Reports are generally available within 3 to 4 weeks after the sample is received at the laboratory.
What does a positive result mean?
A pathogenic variant in the CLCN1 gene confirms the molecular diagnosis of myotonia congenita. It is advisable to discuss the result with a neurologist and genetic counsellor.
What does a negative result mean?
A negative result means no pathogenic variant was detected in the CLCN1 gene. However, it does not exclude myotonia caused by variants in other genes or variants not covered by NGS.
What is myotonia congenita?
Myotonia congenita is a rare inherited neuromuscular disorder that causes muscle stiffness and delayed relaxation after voluntary contraction due to faulty chloride channels in muscle cells.
Who should get this genetic test?
Individuals with clinical symptoms of myotonia, a family history of myotonia congenita, abnormal EMG showing myotonia, or unexplained muscle stiffness should consider this test.
Is this test covered by insurance?
Many private health insurers may cover genetic testing if medically indicated. We recommend checking with your insurance provider. This test is not currently listed under government schemes like PMJAY.
Can this test be used for carrier testing?
Yes, it can detect heterozygous CLCN1 variants, which may indicate carrier status. Carrier interpretation requires expert genetic counselling.
Does this test detect all myotonia genes?
No, this test specifically analyses the CLCN1 gene only. Other myotonia-related genes such as SCN4A are not covered in this test.
Is home sample collection available?
Yes, free home sample collection is available for online bookings in most major cities in India.
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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