RYR1 Gene King-Denborough syndrome NGS Genetic Test
Short Name: RYR1 NGS Genetic Test
Also known as: RYR1 Gene NGS Genetic Test
RYR1 Gene King-Denborough syndrome 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 delivered within 3 to 4 weeks from the date the sample is received at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect disease-causing mutations in the RYR1 gene associated with King-Denborough Syndrome. NGS technology allows parallel sequencing of the entire coding region, ensuring high diagnostic yield. The test helps confirm clinical suspicion, guides management, and enables family screening.
- Test Code
- 4158
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or one drop Blood on FTA Card
- Result Time
- Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting required. Patient should share their clinical history and family pedigree with the genetic counsellor prior to sample collection. For online bookings, a free home sample collection is arranged at your convenience.
Method: Blood draw or cheek swab
Laboratory Analysis
A blood sample will be drawn from a vein in your arm, or one drop of blood may be collected on an FTA card. For cheek swab, a sterile swab is rubbed on the inside of the cheek.
Report Delivery
No special precautions after collection. You may resume normal activities. The sample is securely transported to the laboratory for analysis.
Timeline: Reports are delivered within 3 to 4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect disease-causing mutations in the RYR1 gene associated with King-Denborough Syndrome. NGS technology allows parallel sequencing of the entire coding region, ensuring high diagnostic yield. The test helps confirm clinical suspicion, guides management, and enables family screening.
How to Prepare
- Please provide a valid government-issued ID and prescription if available.
- No fasting is required.
- Ensure the sample collection is scheduled at your convenience via home collection or walk-in.
- Genetic counselling session to draw a pedigree chart is part of the pre-test process.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
- Hemolyzed blood sample
- Inadequate sample volume
- Improper storage or transport
- Missing clinical information
Understanding Your Results
Positive
Pathogenic variant identified; confirms diagnosis of King-Denborough Syndrome.
Negative
No pathogenic variant found; clinical diagnosis is not excluded.
Variant of Uncertain Significance (VUS)
Variant found; further family testing and investigations are required.
If you or your child experiences any symptoms such as muscle weakness, breathing difficulty, or developmental delays, consult a neurologist or clinical geneticist for a comprehensive evaluation. Additionally, if a family member has been diagnosed with an RYR1-related disorder, genetic counselling is advised.
Limitations
- ⚠This test analyzes only the RYR1 gene and does not rule out variants in other genes causing similar phenotypes.
- ⚠Results may include Variants of Uncertain Significance (VUS) which require further investigation.
- ⚠Negative results do not completely exclude King-Denborough Syndrome, especially if clinical suspicion is strong.
Risks & Considerations
- ●The blood draw may cause minor pain, bruising, or infection at the puncture site. These are rare and generally minimal.
Interfering Factors
- ●Inadequate DNA quality
- ●Sample contamination
- ●Incorrect sample labeling
- ●NGS artifacts
Frequently Asked Questions
What is the cost of the RYR1 Gene King-Denborough Syndrome NGS Genetic Test?
What is King-Denborough Syndrome?
What are the symptoms of King-Denborough Syndrome?
How is the test performed?
What sample is required for the RYR1 gene NGS test?
Is fasting required before the test?
How long does it take to get the test report?
How will I receive my test report?
What is the purpose of the RYR1 gene NGS test?
Is genetic counselling required before the test?
Does DNA Labs India provide raw data with the report?
Who should consider undergoing this genetic test?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference 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.
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.