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CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test

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CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test

Short Name: CHRNE Gene CMS NGS Test

Also known as: Congenital Myasthenic Syndrome NGS Test, CHRNE Gene Test, CMS Genetic Test

CHRNE Gene Myasthenic syndrome, congenital NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks. 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

The purpose of this test is to diagnose congenital myasthenic syndrome caused by mutations in the CHRNE gene, facilitating appropriate medical management, treatment decisions, and genetic counseling.

Test Code
1738
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
NGS (Next-Generation Sequencing)
Step 1

Sample Collection

No specific preparation is required. Ensure genetic counseling session is completed and clinical history is provided.

Method: Venipuncture or Finger prick

Step 2

Laboratory Analysis

A blood sample is drawn via venipuncture or a finger prick for FTA card collection. The process is minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines for stability.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Complete genetic counseling and provide clinical history. No fasting required.
2
During the Test:Sample collection via blood draw or finger prick. Procedure takes about 10-15 minutes.
3
After the Test:Results available in 3-4 weeks. Follow-up with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

The purpose of this test is to diagnose congenital myasthenic syndrome caused by mutations in the CHRNE gene, facilitating appropriate medical management, treatment decisions, and genetic counseling.

How to Prepare

  • Use sterile equipment for sample collection
  • Label samples with patient details accurately
  • Transport samples at ambient room temperature

Doctor's Notes

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

"Genetic testing for CHRNE gene mutations is crucial for confirming congenital myasthenic syndrome, guiding treatment, and informing family planning decisions."

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
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Finger prick

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C
FTA Card: stable at room temperature for extended periods
Sample Rejection Criteria:
  • Samples with hemolysis or clotting
  • Incorrect labeling or insufficient volume
  • Samples collected without proper consent or documentation

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CHRNE gene. A positive result confirms congenital myasthenic syndrome, while a negative result may require further testing.
📊

Pathogenic variant detected; confirms CHRNE-related congenital myasthenic syndrome. Consult a neurologist for treatment.

Result type: Positive

📊

No pathogenic variants found. Consider other genetic tests or clinical evaluation for differential diagnosis.

Result type: Negative

📊

Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be needed.

Result type: Variant of Uncertain Significance (VUS)

⚠️ When to Consult a Doctor:

Consult a neurologist or geneticist if symptoms persist, for treatment planning, or for family planning after a positive result.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or intronic variants
  • ⚠Requires genetic counseling for interpretation of results
  • ⚠Limited to analysis of the CHRNE gene; other CMS genes not covered

Risks & Considerations

  • ●Minor bruising or pain at the puncture site
  • ●Minimal risk of infection from blood draw

Interfering Factors

  • ●Poor sample quality or insufficient DNA
  • ●Hemolysis in blood samples
  • ●Contamination during sample collection or processing

Frequently Asked Questions

What is the CHRNE Gene Myasthenic Syndrome NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CHRNE gene, which causes congenital myasthenic syndrome, a disorder leading to muscle weakness and fatigue.
How much does the test cost?
The test costs INR 20000.0, with home sample collection available across India at no additional charge.
What sample type is required?
The test can be performed on blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample receipt.
What are the symptoms of CHRNE-related congenital myasthenic syndrome?
Symptoms include muscle weakness in the face, neck, and limbs, difficulty swallowing and speaking, shortness of breath, respiratory failure episodes, and problems with eye movements.
How is the test performed?
The test involves analyzing the CHRNE gene from a blood or DNA sample using NGS technology to identify pathogenic mutations.
Who should take this test?
Individuals with symptoms of congenital myasthenic syndrome, a family history of the disorder, or those seeking genetic confirmation should consider this test.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What does a positive result mean?
A positive result confirms a diagnosis of congenital myasthenic syndrome due to CHRNE gene mutations, guiding treatment and management decisions.
Are there any risks associated with the test?
The test is low-risk, with minor side effects like bruising from blood draw. Genetic counseling is provided to discuss implications.
Can this test be used for prenatal diagnosis?
This test is for diagnostic purposes in symptomatic individuals. For prenatal or carrier testing, consult a genetic counselor for appropriate options.
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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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

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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.

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