RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test
Short Name: RYR1 Minicore Myopathy NGS Test
Also known as: RYR1 Related Congenital Myopathy NGS Test, RYR1 Gene Sequencing Test, Multiminicore Disease Genetic Test, RYR1 Myopathy DNA Test
RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Confirmation, Bioinformatics Variant Analysis 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 the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic Test is to detect pathogenic or likely pathogenic mutations in the RYR1 gene that cause minicore myopathy with external ophthalmoplegia. This test enables molecular confirmation of the clinical diagnosis, differentiation from other congenital myopathies, identification of carriers within families, and supports informed genetic counselling. A confirmed genetic diagnosis is also critical for anaesthesia risk evaluation, as RYR1 mutations are associated with malignant hyperthermia susceptibility.
- Test Code
- 1717
- CPT Code
- 81405
- ICD Code
- G71.2
- 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), Sanger Confirmation, Bioinformatics Variant Analysis
Sample Collection
No special preparation such as fasting is required. Ensure the patient's clinical history and family pedigree information are documented prior to sample collection. A genetic counselling session is recommended before testing to discuss the implications of results.
Method: Venipuncture
Laboratory Analysis
A blood sample of 3 to 5 mL is collected via venipuncture into an EDTA (lavender-top) vacutainer. Alternatively, one drop of blood on an FTA card or previously extracted DNA may be used. The sample is labelled accurately and transported at ambient temperature.
Report Delivery
After collection, the sample is transported to the laboratory at ambient room temperature. DNA is extracted and processed for next-generation sequencing. The clinical report is prepared with variant interpretation and is typically available within 3 to 4 weeks. Raw data files including FASTQ and VCF files are shared upon request.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the RYR1 Gene Minicore Myopathy with External Ophthalmoplegia NGS Genetic Test is to detect pathogenic or likely pathogenic mutations in the RYR1 gene that cause minicore myopathy with external ophthalmoplegia. This test enables molecular confirmation of the clinical diagnosis, differentiation from other congenital myopathies, identification of carriers within families, and supports informed genetic counselling. A confirmed genetic diagnosis is also critical for anaesthesia risk evaluation, as RYR1 mutations are associated with malignant hyperthermia susceptibility.
How to Prepare
- Collect 3 to 5 mL of peripheral venous blood in an EDTA vacutainer (lavender top)
- Alternatively, provide one drop of blood on an FTA card or extracted DNA in a sterile tube
- Label the sample clearly with patient name, date of birth, and unique identification number
- Transport the sample at ambient room temperature; avoid extreme heat or freezing
- Do not use heparinised blood tubes as heparin may interfere with molecular testing
- Include the completed test requisition form and clinical history with the sample
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"RYR1 gene mutations are one of the most common causes of congenital myopathies. Early genetic diagnosis through NGS testing allows for accurate classification of the disorder, appropriate genetic counselling for families, and informed management planning. If a patient presents with proximal muscle weakness, external ophthalmoplegia, and low muscle tone from early life, RYR1 gene testing should be strongly considered. Molecular confirmation helps differentiate minicore myopathy from other congenital myopathies and muscular dystrophies, guiding long-term care and family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample collected in heparinised tube
- Haemolysed, clotted, or insufficient sample volume
- Sample without proper labelling or requisition form
- Sample received after prolonged transit beyond stability period
- Contaminated or degraded DNA sample
Understanding Your Results
Pathogenic Variant Detected
One or more pathogenic or likely pathogenic variants identified in the RYR1 gene. This confirms the molecular diagnosis of RYR1-related minicore myopathy. Genetic counselling and family screening are recommended. Note: RYR1 mutations may also be associated with malignant hyperthermia susceptibility.
Variant of Uncertain Significance (VUS)
A variant in the RYR1 gene was detected but cannot currently be classified as pathogenic or benign. Further family segregation studies, functional analysis, and clinical correlation are recommended. Genetic counselling should be provided to discuss implications.
No Pathogenic Variant Detected
No pathogenic or likely pathogenic variants were identified in the RYR1 gene. This result does not exclude other genetic causes of congenital myopathy. Clinical correlation and consideration of additional gene panels or further investigations may be warranted.
Consult a clinical geneticist or neurologist if your child or family member shows signs of persistent muscle weakness, low muscle tone, restricted eye movements, difficulty swallowing or breathing, or delayed motor milestones. Prompt consultation is also advised if a family member has been diagnosed with a congenital myopathy, if muscle biopsy findings suggest minicore disease, or if there is a known family history of RYR1-related disorders. A genetic counselling session before and after testing is strongly recommended.
Limitations
- ⚠This test targets coding regions and flanking intronic regions of the RYR1 gene; deep intronic or regulatory region variants may not be detected
- ⚠Large copy number variations (CNVs) or structural rearrangements may require additional testing such as MLPA or chromosomal microarray
- ⚠A negative result does not fully exclude a genetic basis for the condition, as other genes may be involved
- ⚠Variants of Uncertain Significance (VUS) may be reported and require clinical correlation and possible family segregation studies
- ⚠This test does not detect mitochondrial DNA variants
Risks & Considerations
- ●Minor bruising or discomfort at the venipuncture site
- ●Very rare risk of infection at the blood draw site
- ●Emotional impact of receiving genetic diagnosis; genetic counselling is recommended before and after testing
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Sample contamination during collection or transport may compromise test integrity
- ●Heparinised blood samples are not recommended as heparin can inhibit downstream molecular reactions
Compare With Similar Tests
| Test | RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test | RYR1 Gene Sequencing by Sanger Method | Congenital Myopathy Gene Panel (Multi-Gene NGS) | Whole Exome Sequencing (WES) |
|---|---|---|---|---|
| Comparison | RYR1 Gene Minicore myopathy with external ophthalmoplegia NGS Genetic Test | Sanger sequencing examines one exon at a time and is suited for known familial variants. NGS provides comprehensive analysis of the entire RYR1 gene simultaneously, offering higher throughput and sensitivity for novel variant detection. | A multi-gene panel analyses multiple genes associated with congenital myopathies simultaneously, including ACTA1, NEB, TPM3, and others. The RYR1-specific NGS test focuses exclusively on the RYR1 gene for targeted analysis when clinical suspicion is high. | WES analyses all protein-coding regions across the genome. It is broader but more costly and may identify incidental findings. The RYR1-specific test is more focused, cost-effective, and faster when RYR1-related disorder is clinically suspected. |
Frequently Asked Questions
What is RYR1 Gene Minicore Myopathy with External Ophthalmoplegia?
What causes RYR1 Gene Minicore Myopathy with External Ophthalmoplegia?
What are the common symptoms of RYR1 Gene Minicore Myopathy?
How is RYR1 Gene Minicore Myopathy diagnosed?
What is the NGS Genetic Test for RYR1 Gene Minicore Myopathy?
What sample is required for the RYR1 Gene NGS Genetic Test?
How long does it take to get the results of the RYR1 Gene NGS Genetic Test?
What is the cost of the RYR1 Gene Minicore Myopathy NGS Genetic Test?
Is genetic counselling recommended before and after the RYR1 Gene test?
Can RYR1 Gene Minicore Myopathy be treated?
Is the RYR1 Gene NGS Genetic Test available for children and infants?
Does DNA Labs India offer home sample collection for the RYR1 Gene NGS Genetic Test?
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