CHRNA1 Gene Myasthenic syndrome, congenital, fast channel NGS Genetic Test
Short Name: CHRNA1 CMS Fast Channel NGS
Also known as: CHRNA1 Gene Test, Fast Channel CMS Genetic Test, CHRNA1 Congenital Myasthenic Syndrome NGS Test, CHRNA1 Neuromuscular Genetic Test
CHRNA1 Gene Myasthenic syndrome, congenital, fast channel 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 issued within 3 to 4 weeks of sample receipt at the laboratory. The report will be delivered on the selected digital channel.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect pathogenic or likely pathogenic variants in the CHRNA1 gene in individuals with clinical or electrophysiological features of congenital myasthenic syndrome. The result helps confirm the molecular diagnosis, differentiate fast-channel CMS from other neuromuscular disorders, guide management, and provide a basis for genetic counselling and family testing.
- Test Code
- 4376
- CPT Code
- NA
- ICD Code
- G70.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are issued within 3 to 4 weeks of sample receipt at the laboratory. The report will be delivered on the selected digital channel.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
A pre-test genetic counselling session is recommended to draw a family pedigree and obtain informed consent. There is no need to fast for this test.
Method: Peripheral venous blood draw or finger-prick blood spot on FTA card
Laboratory Analysis
A blood sample is drawn into an EDTA tube, or a single drop of blood is applied to the indicated circle of an FTA card. If extracted DNA is submitted, it should be labelled with a unique identifier.
Report Delivery
The sample should be transported to the laboratory as per kit instructions. FTA cards should be dried completely before sealing in the protective pouch. Keep whole blood samples at 2-8°C until dispatch.
Timeline: Reports are issued within 3 to 4 weeks of sample receipt at the laboratory. The report will be delivered on the selected digital channel.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect pathogenic or likely pathogenic variants in the CHRNA1 gene in individuals with clinical or electrophysiological features of congenital myasthenic syndrome. The result helps confirm the molecular diagnosis, differentiate fast-channel CMS from other neuromuscular disorders, guide management, and provide a basis for genetic counselling and family testing.
How to Prepare
- No fasting is required.
- Complete the genetic counselling session and informed consent.
- Provide clinical history, EMG report and pedigree information.
- Ensure the sample is labelled with the patient's name and date of birth.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Fast-channel congenital myasthenic syndrome can be misdiagnosed as seronegative myasthenia gravis. A targeted NGS test for CHRNA1 establishes the molecular diagnosis and guides treatment and reproductive counselling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Haemolysed or clotted blood sample
- Incorrectly labelled sample
- Inadequate blood volume or insufficient FTA spots
- Sample not accompanied by clinical history and completed genetic counselling form
Understanding Your Results
Pathogenic variant detected
Confirms the diagnosis of CHRNA1-related congenital myasthenic syndrome. Genetic counselling and family segregation testing are recommended.
Likely pathogenic variant detected
Highly likely to be disease-causing; additional segregation or functional evidence may be useful.
Variant of uncertain significance (VUS) identified
Cannot confirm or exclude the diagnosis. Family studies and additional clinical data are needed.
No pathogenic variant detected
Does not exclude CMS. Other genes or non-genetic causes should be considered.
If the report identifies a pathogenic or likely pathogenic variant, consult a neurologist and a clinical geneticist for treatment, surveillance and genetic counselling. Discuss reproductive risks with family members as appropriate.
Limitations
- ⚠Standard NGS may not detect large structural rearrangements, repeats or deep intronic variants.
- ⚠A variant of uncertain significance (VUS) does not provide a definitive diagnosis and may require family studies.
- ⚠A negative result does not exclude all forms of congenital myasthenic syndrome; a comprehensive CMS gene panel may be considered if clinical suspicion remains high.
- ⚠Results should be interpreted in the context of clinical presentation and EMG findings.
Risks & Considerations
- ●Bruising at venipuncture site
- ●Lightheadedness during blood draw
- ●Possible anxiety about the genetic result
Interfering Factors
- ●Poor DNA quality or quantity
- ●Clotted or haemolysed blood samples
- ●Incorrect sample tube / use of heparin instead of EDTA
- ●Consanguinity or complex family histories can complicate segregation interpretation
Compare With Similar Tests
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Frequently Asked Questions
What is the CHRNA1 gene congenital myasthenic syndrome fast channel NGS genetic test?
What disease does this test screen for?
What are the usual symptoms of fast-channel CMS?
Who should consider this CHRNA1 genetic test?
What type of sample is required?
Does this test require fasting?
What is the cost of this test in India?
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How will I know if my test is positive?
Can a negative CHRNA1 test exclude all congenital myasthenic syndromes?
Is this genetic test covered by health insurance?
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