CHRND Gene Myasthenic syndrome, congenital, type 3A, slow channel NGS Genetic Test
Short Name: CHRND Gene NGS Test
Also known as: CMS Type 3A Slow-Channel, CHRND Gene Mutation Test
CHRND Gene Myasthenic syndrome, congenital, type 3A, slow 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 3 to 4 weeks. 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 identify mutations in the CHRND gene that cause congenital myasthenic syndrome type 3A, slow-channel type. This helps in confirming the diagnosis, understanding the genetic basis of the condition, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.
- Test Code
- 1745
- 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)
Sample Collection
Provide complete clinical history and family pedigree. A genetic counseling session is recommended to discuss the test and implications.
Method: Venipuncture or finger prick for FTA card
Laboratory Analysis
A blood sample will be collected by a trained phlebotomist via venipuncture or using an FTA card for a drop of blood. Minimal discomfort is expected.
Report Delivery
Apply gentle pressure to the puncture site to prevent bruising. Results will be available online after 3-4 weeks.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the CHRND gene that cause congenital myasthenic syndrome type 3A, slow-channel type. This helps in confirming the diagnosis, understanding the genetic basis of the condition, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.
How to Prepare
- No fasting required
- Bring a valid ID and doctor's prescription or referral
- Inform the healthcare provider about any medications or underlying conditions
- Home sample collection is available in major cities across India
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for congenital myasthenic syndromes is essential for accurate diagnosis, personalized treatment, and genetic counseling to aid families in managing the condition effectively."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrectly labeled or contaminated sample
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of congenital myasthenic syndrome type 3A slow-channel. Genetic counseling is recommended for family planning and management.
Negative
No pathogenic variant detected in the CHRND gene. Consider other genetic or non-genetic causes of symptoms and additional testing if needed.
Variant of uncertain significance (VUS)
The clinical significance is unclear. Further family studies and functional analyses may be required for clarification.
If you or a family member experience symptoms such as muscle weakness, fatigue, difficulty breathing or swallowing, or if there is a known family history of congenital myasthenic syndromes, consult a neurologist or genetic specialist for evaluation and testing.
Limitations
- ⚠May detect variants of uncertain significance requiring further analysis
- ⚠Does not rule out all genetic causes of myasthenia
- ⚠Results should be interpreted in conjunction with clinical findings and family history
Risks & Considerations
- ●Minor bruising or pain at the puncture site
- ●Rare risk of infection or fainting
- ●No significant health risks from genetic testing itself
Interfering Factors
- ●Poor sample quality or DNA degradation
- ●Hemolysis in blood sample
- ●Improper sample storage or handling
Frequently Asked Questions
What is the CHRND Gene NGS Genetic Test?
Who should consider getting this test?
What are the common symptoms of this syndrome?
How is the test performed?
What is the cost of the CHRND Gene NGS Test?
Is home sample collection available for this test?
How long does it take to receive the test results?
What do the test results mean?
Is genetic testing covered by insurance in India?
Can this test detect all mutations associated with congenital myasthenic syndrome?
Are there any risks associated with the test?
How accurate is the NGS Genetic Test?
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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.
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