SELENON Gene Myopathy with fiber-type disproportion NGS Genetic Test
Short Name: SELENON Gene Myopathy NGS Test
Also known as: SEPN1-Related Myopathy Test, Congenital Myopathy with Fiber-Type Disproportion NGS Test, SELENON-Related Congenital Myopathy Genetic Test, Multiminicore Disease with Fiber-Type Disproportion DNA Test, SEPN1 Gene Sequencing Test
SELENON Gene Myopathy with fiber-type disproportion NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Bioinformatics Analysis, Sanger Confirmation (if required) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.. 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 SELENON Gene Myopathy with Fiber-Type Disproportion NGS Genetic Test is performed to identify pathogenic mutations in the SELENON gene responsible for this rare congenital myopathy. This test serves multiple critical clinical purposes: confirming a clinical diagnosis in symptomatic individuals, differentiating SELENON-related myopathy from other neuromuscular disorders with overlapping presentations such as central core disease or other congenital myopathies, identifying the specific genetic variants responsible for the condition to guide personalised management strategies, facilitating genetic counselling for affected families to determine carrier status and recurrence risks, and enabling carrier testing and prenatal or preimplantation genetic diagnosis for at-risk family members when indicated.
- Test Code
- 1761
- CPT Code
- 81479
- ICD Code
- G71.2
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Bioinformatics Analysis, Sanger Confirmation (if required)
Sample Collection
A genetic counselling session is strongly recommended before sample collection to discuss the purpose of the test, its implications, expected outcomes, and to draw a detailed pedigree chart of family members affected with or at risk for SELENON Gene Myopathy. A comprehensive clinical history of the patient should be provided, including onset and progression of symptoms, family history of neuromuscular disorders, consanguinity, and any previous diagnostic workup such as muscle biopsy or creatine kinase levels.
Method: Venipuncture or FTA Card Spot Collection
Laboratory Analysis
A small blood sample of 3-5 mL is collected via standard venipuncture into an EDTA (lavender-top) tube. Alternatively, one drop of blood on an FTA card or a saliva sample in an appropriate collection kit may be used. The procedure is non-invasive, painless, and typically takes less than 5 minutes. The sample is clearly labeled with patient details and sealed for transport.
Report Delivery
After sample collection, patients can resume normal daily activities immediately with no restrictions. The collected sample is transported under appropriate conditions to DNA Labs India's laboratory for DNA extraction and NGS analysis. Results are typically available within 3 to 4 weeks. The genetic report includes detailed variant analysis, clinical interpretation, and raw data files (FASTQ and VCF) for transparency and future reference.
Timeline: Results are typically available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The SELENON Gene Myopathy with Fiber-Type Disproportion NGS Genetic Test is performed to identify pathogenic mutations in the SELENON gene responsible for this rare congenital myopathy. This test serves multiple critical clinical purposes: confirming a clinical diagnosis in symptomatic individuals, differentiating SELENON-related myopathy from other neuromuscular disorders with overlapping presentations such as central core disease or other congenital myopathies, identifying the specific genetic variants responsible for the condition to guide personalised management strategies, facilitating genetic counselling for affected families to determine carrier status and recurrence risks, and enabling carrier testing and prenatal or preimplantation genetic diagnosis for at-risk family members when indicated.
How to Prepare
- Fasting is not required for this test
- Provide a complete clinical history and family pedigree during the pre-test genetic counselling session
- Ensure the blood sample is collected in an EDTA (lavender-top) tube
- For FTA card samples, ensure the blood spot fully saturates the designated area and allow it to dry completely
- Label all samples clearly with patient name, date of birth, date of collection, and test requisition number
- Transport blood samples at 2-8°C; FTA card samples may be transported at room temperature
- Avoid hemolysis during blood collection by using appropriate needle gauge and gentle handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"As a neurologist, I frequently encounter patients with undiagnosed congenital myopathies presenting as early-onset proximal muscle weakness and delayed motor milestones. The SELENON Gene Myopathy NGS Genetic Test is an invaluable diagnostic tool that helps differentiate this condition from other neuromuscular disorders with overlapping presentations, such as congenital muscular dystrophy, central core disease, or other congenital myopathies. Early molecular diagnosis through next-generation sequencing enables timely intervention, including proactive respiratory monitoring, structured physiotherapy, nutritional support for swallowing difficulties, and orthopedic management of scoliosis and joint contractures. I recommend this test for any patient presenting with unexplained early-onset proximal muscle weakness, axial hypotonia, respiratory insufficiency, or delayed motor milestones of unclear etiology, particularly when muscle biopsy findings suggest fiber-type disproportion."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume for DNA extraction and NGS analysis
- Clotted blood sample collected in an EDTA tube
- Severely hemolyzed sample that may affect DNA quality
- Sample collected in an incorrect container or with an incompatible anticoagulant
- Sample received without proper labeling, patient identification, or completed requisition form
- Sample received beyond the stability window for the given specimen type
- Contaminated or leaking sample container
Understanding Your Results
No Pathogenic Variants Detected
Reduced likelihood of SELENON gene myopathy, but does not definitively rule out the diagnosis
Pathogenic Variant(s) Detected
Confirms molecular diagnosis when biallelic pathogenic variants are identified; enables genetic counselling, carrier testing, and family planning
Variant of Uncertain Significance (VUS) Detected
Cannot confirm or exclude diagnosis; requires clinical correlation, family studies, and periodic reassessment
Single Heterozygous Pathogenic Variant Detected
Carrier status confirmed; additional testing recommended if clinically symptomatic
Consult a neurologist or clinical geneticist if your test reveals pathogenic or likely pathogenic variants in the SELENON gene, or if a variant of uncertain significance (VUS) is detected in the context of clinical symptoms. Additionally, seek medical consultation if the test is negative but clinical symptoms of proximal muscle weakness, respiratory insufficiency, delayed motor milestones, or progressive scoliosis persist, as additional genetic or diagnostic testing may be necessary. Families with a confirmed diagnosis should also consult a genetic counsellor to discuss carrier testing, recurrence risks, and reproductive options.
Limitations
- ⚠This test may not detect large deletions or duplications in the SELENON gene; additional MLPA analysis may be required
- ⚠Variants of uncertain significance (VUS) may be identified that cannot be definitively classified as pathogenic or benign at the time of testing
- ⚠Deep intronic mutations, regulatory region variants, and structural variants outside the coding region may not be detected
- ⚠Results must always be interpreted in conjunction with clinical findings, family history, and other diagnostic workup
- ⚠A negative result does not completely rule out SELENON gene myopathy if mutations exist in regions not covered by this assay
- ⚠The test does not assess mitochondrial DNA variants or other genes associated with congenital myopathy
Risks & Considerations
- ●Minimal risk associated with venipuncture, including mild bruising, swelling, or discomfort at the needle insertion site
- ●Extremely rare risk of infection at the venipuncture site
- ●Potential psychological impact of genetic test results; genetic counselling is recommended before and after testing
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing results
- ●Blood sample collected in an improper anticoagulant tube or with clot formation
- ●Recent blood transfusion within the preceding 6 months may interfere with analysis
- ●Contamination of the sample during collection, transport, or processing
- ●Low-quality FTA card sample due to improper storage or handling
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Frequently Asked Questions
What is SELENON Gene Myopathy with Fiber-Type Disproportion?
What causes SELENON Gene Myopathy?
What are the common symptoms of SELENON Gene Myopathy?
How is SELENON Gene Myopathy diagnosed?
What is the NGS Genetic Test for SELENON Gene Myopathy?
What sample type is required for the SELENON Gene Myopathy NGS Test?
How much does the SELENON Gene Myopathy NGS Genetic Test cost at DNA Labs India?
How long does it take to get the test results?
Is the SELENON Gene Myopathy NGS Genetic Test painful?
Can SELENON Gene Myopathy be detected before birth?
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Does DNA Labs India provide raw data files with the test report?
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