Skip to main content
DNA Labs India

CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic Test

Short Name: CHRNB1 Gene Myasthenic Syndrome Test

Also known as: CHRNB1 Mutation Analysis, Congenital Myasthenic Syndrome Genetic Test, CMS CHRNB1 Test

CHRNB1 Gene Myasthenic syndrome, congenital 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 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 detect mutations in the CHRNB1 gene to confirm congenital myasthenic syndrome, aid in differential diagnosis, and inform treatment strategies.

Test Code
1742
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide detailed clinical history and undergo genetic counseling session to draw a pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Standard blood draw procedure is performed.

Step 3

Report Delivery

Blood sample is processed for DNA extraction and NGS analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a neurologist or geneticist for evaluation and test recommendation.
2
During the Test:A blood sample is collected from a vein in the arm.
3
After the Test:The sample is sent to the laboratory for analysis. Results are available in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CHRNB1 gene to confirm congenital myasthenic syndrome, aid in differential diagnosis, and inform treatment strategies.

How to Prepare

  • Schedule a genetic counseling session
  • Provide medical history and family history
  • Ensure informed consent is obtained

Doctor's Notes

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

"Genetic testing for CHRNB1 is crucial for confirming congenital myasthenic syndrome and guiding personalized treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Room temperature
Refrigerated
Sample Rejection Criteria:
  • Hemolyzed or lipemic sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results are interpreted based on the detection of pathogenic variants in the CHRNB1 gene.
Positive: Pathogenic variant detected, confirming diagnosis
Negative: No pathogenic variant detected, but clinical correlation needed
Variant of Uncertain Significance (VUS): Further testing or family studies recommended
⚠️ When to Consult a Doctor:

If you or your child experience persistent muscle weakness, fatigue, or symptoms suggestive of neuromuscular disorders.

Limitations

  • ⚠May not detect large deletions or duplications
  • ⚠Variants of uncertain significance may require further analysis
  • ⚠Does not rule out other causes of neuromuscular disorders

Risks & Considerations

  • ●Minor bruising at the puncture site
  • ●Rare risk of infection
  • ●Anxiety related to test results

Interfering Factors

  • ●Poor sample quality
  • ●DNA degradation
  • ●Contamination

Compare With Similar Tests

TestCHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic TestCHRNA1 Gene TestCMS Gene PanelAcetylcholine Receptor Antibody TestElectromyography (EMG)
ComparisonCHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic Test

Frequently Asked Questions

What is CHRNB1 gene myasthenic syndrome?
It is a congenital myasthenic syndrome caused by mutations in the CHRNB1 gene, leading to muscle weakness and fatigue due to neuromuscular junction dysfunction.
Who should consider this genetic test?
Individuals with symptoms such as muscle weakness, difficulty breathing, swallowing, or a family history of congenital myasthenic syndrome.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the CHRNB1 gene from a blood or DNA sample.
What is the cost of the CHRNB1 genetic test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to receive results?
Results are typically available within 3 to 4 weeks after sample receipt.
What do positive results mean?
Positive results indicate the presence of pathogenic mutations in the CHRNB1 gene, confirming congenital myasthenic syndrome.
Is the test covered by insurance?
Coverage depends on the insurance policy; it is not typically covered under government schemes like PMJAY.
Are there any risks associated with the test?
The test involves a standard blood draw, with minimal risks such as bruising or infection.
How should I prepare for the test?
No fasting is required. Provide clinical and family history during genetic counseling.
Can children undergo this test?
Yes, the test can be performed on individuals of all ages, including children and infants.
What if the test is negative but symptoms persist?
A negative result does not rule out other conditions; consult a healthcare provider for further evaluation.
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.