RYR1 Gene Central Core Disease NGS Genetic Test
Short Name: RYR1 CCD NGS Test
Also known as: RYR1 Gene Mutation Test, Central Core Disease Genetic Test, RYR1 NGS Panel, CCD NGS Genetic Test
RYR1 Gene Central Core Disease 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 available within 3 to 4 weeks after the sample reaches the lab.. 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 the RYR1 Gene Central Core Disease NGS Genetic Test is to confirm a clinical diagnosis of Central Core Disease by detecting pathogenic variants in the RYR1 gene. It also helps differentiate CCD from other congenital myopathies, guide management strategies, assess recurrence risks for families, and aid in carrier testing when relevant.
- Test Code
- 3944
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks after the sample reaches the lab.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. A genetic counseling session is recommended prior to testing.
Method: Peripheral blood draw or dried blood spot on FTA card
Laboratory Analysis
A small blood sample will be collected by a trained phlebotomist, or a few drops will be placed on an FTA card.
Report Delivery
No restrictions. You can resume normal activities immediately.
Timeline: Reports are available within 3 to 4 weeks after the sample reaches the lab.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RYR1 Gene Central Core Disease NGS Genetic Test is to confirm a clinical diagnosis of Central Core Disease by detecting pathogenic variants in the RYR1 gene. It also helps differentiate CCD from other congenital myopathies, guide management strategies, assess recurrence risks for families, and aid in carrier testing when relevant.
How to Prepare
- No fasting is required.
- Ensure the sample is collected in an EDTA tube if blood is drawn.
- If using an FTA card, allow the blood spot to air dry before packaging.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Central Core Disease enables timely family counselling and proactive management of symptoms."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolysed or clotted blood sample
- Insufficient sample quantity
- Improperly labeled specimen
- Sample leaking during transport
Understanding Your Results
Pathogenic variant(s) detected
Confirms the diagnosis of Central Core Disease in a symptomatic individual.
No pathogenic variant detected
Reduces the likelihood of RYR1-related CCD, but cannot completely rule it out.
Variant of uncertain significance (VUS)
Additional family testing or functional studies may be needed.
If you experience unexplained muscle weakness, delayed motor development, or have a family history of Central Core Disease, consult a neurologist or genetic counselor.
Limitations
- ⚠NGS may not detect deep intronic mutations, large structural variants, or trinucleotide repeat expansions.
- ⚠Results may include variants of uncertain clinical significance (VUS).
- ⚠A negative result does not fully exclude CCD if clinical suspicion remains strong.
Risks & Considerations
- ●No significant risks. Minor bruising may occur at the puncture site.
Interfering Factors
- ●Sample contamination or degradation
- ●Incomplete clinical information or family history
- ●Incorrect sample collection or labeling
Frequently Asked Questions
What is the RYR1 Gene Central Core Disease 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.
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.
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