MYOT Gene Myotilinopathy NGS Genetic Test
Short Name: MYOT Gene NGS Test
Also known as: MYOT Gene Sequencing Test, Myotilin Genetic Test, MYOT Mutation Analysis, Myofibrillar Myopathy Genetic Test, MYOT NGS Panel Test
MYOT Gene Myotilinopathy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Bioinformatics Analysis, Variant Classification (ACMG Guidelines) on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt at the laboratory. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The primary purpose of the MYOT Gene Myotilinopathy NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MYOT gene to confirm a clinical diagnosis of myotilinopathy. This test aids neurologists and clinical geneticists in establishing a definitive molecular diagnosis, differentiating myotilinopathy from other muscular dystrophies and myopathies with overlapping clinical features, enabling accurate genetic counseling for patients and their families, informing prognosis and disease management strategies, and supporting informed family planning decisions.
- Test Code
- 1760
- CPT Code
- 81405
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt at the laboratory
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Bioinformatics Analysis, Variant Classification (ACMG Guidelines)
Sample Collection
A detailed clinical history and family pedigree should be obtained. Genetic counseling is recommended before and after testing. No special preparation such as fasting is required. Inform the laboratory of any recent blood transfusions or ongoing anticoagulant therapy.
Method: Venipuncture
Laboratory Analysis
A qualified phlebotomist will collect 3-5 mL of venous blood in an EDTA (lavender top) tube under aseptic conditions. Alternatively, one drop of blood may be spotted on an FTA card. The procedure typically takes less than 10 minutes.
Report Delivery
Apply gentle pressure to the puncture site with a cotton ball or gauze for 3-5 minutes. Avoid heavy lifting or strenuous activity with the punctured arm for a few hours. Mild bruising at the site is normal and resolves within a few days.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the MYOT Gene Myotilinopathy NGS Genetic Test is to identify pathogenic or likely pathogenic mutations in the MYOT gene to confirm a clinical diagnosis of myotilinopathy. This test aids neurologists and clinical geneticists in establishing a definitive molecular diagnosis, differentiating myotilinopathy from other muscular dystrophies and myopathies with overlapping clinical features, enabling accurate genetic counseling for patients and their families, informing prognosis and disease management strategies, and supporting informed family planning decisions.
How to Prepare
- Collect 3-5 mL venous blood in an EDTA (lavender top) tube
- Alternatively, spot one drop of blood on the provided FTA card
- Label the sample clearly with patient name, date of birth, and date of collection
- Store the sample at ambient room temperature (15-30 degrees Celsius)
- Transport the sample to the laboratory within 48 hours of collection
- Do not freeze the blood sample
- Ensure the EDTA tube is gently mixed 8-10 times after collection to prevent clotting
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Patients presenting with progressive proximal muscle weakness and a family history consistent with autosomal dominant inheritance should be evaluated for MYOT gene mutations. Early genetic diagnosis enables appropriate multidisciplinary management, genetic counseling for at-risk family members, and informed reproductive planning. I recommend this NGS-based test for any patient with suspected myofibrillar myopathy or a limb-girdle pattern of muscle weakness where initial CK and EMG findings are inconclusive."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed, clotted, or insufficient sample volume
- Sample collected in incorrect tube type (non-EDTA)
- Sample without proper labeling or identification
- Sample received beyond the acceptable stability window
- Contaminated or leaked sample
Understanding Your Results
Pathogenic Variant Detected
Confirms the diagnosis of MYOT gene myotilinopathy. Genetic counseling for family members is recommended. Management should focus on symptom control, rehabilitation, and monitoring for disease progression.
Likely Pathogenic Variant Detected
Strongly suggestive of MYOT gene myotilinopathy. Clinical correlation with symptoms and family history is advised. Additional family studies may help confirm pathogenicity.
Variant of Uncertain Significance (VUS)
A genetic variant was detected but current evidence is insufficient to classify it as pathogenic or benign. Further family studies, functional analysis, and clinical correlation are recommended. Reanalysis may be warranted as new data becomes available.
Likely Benign Variant Detected
The variant identified is unlikely to be the cause of the patient's symptoms. Clinical correlation is advised and alternative diagnoses should be considered.
No Pathogenic Variant Detected
No disease-causing mutations in the MYOT gene were identified. This result does not completely rule out myotilinopathy, as mutations in other genes can cause similar symptoms, or the mutation may lie in regions not covered by this test. Clinical and genetic evaluation should continue.
Consult your neurologist or clinical geneticist if you experience progressive muscle weakness, difficulty walking or climbing stairs, difficulty rising from a seated position, frequent falls, unexplained muscle pain, muscle wasting, or respiratory difficulties — especially if there is a family history of similar symptoms. Early evaluation and genetic testing can lead to timely diagnosis and appropriate management.
Limitations
- ⚠This test may not detect large genomic rearrangements, deep intronic variants, or copy number variations in the MYOT gene
- ⚠Variants of uncertain significance (VUS) may be identified and require further clinical correlation and family studies
- ⚠A negative result does not completely exclude the possibility of myotilinopathy caused by mutations in other genes
- ⚠This test is specific to the MYOT gene and does not screen for other muscular dystrophy-associated genes unless specifically ordered
Risks & Considerations
- ●Minimal risk associated with blood collection: mild pain, bruising, or swelling at the puncture site
- ●Risk of identifying variants of uncertain significance (VUS) that may cause anxiety
- ●Psychological impact of a positive genetic diagnosis on the patient and family members
- ●Risk of incidental findings unrelated to myotilinopathy
Interfering Factors
- ●Degraded or insufficient DNA quality in the sample
- ●Recent blood transfusion within the past 4 weeks may affect results
- ●Sample contamination during collection or transport
- ●Hemolyzed blood samples may impact DNA extraction quality
Compare With Similar Tests
| Test | MYOT Gene Myotilinopathy NGS Genetic Test | |||
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| Comparison | MYOT Gene Myotilinopathy NGS Genetic Test |
Frequently Asked Questions
What is MYOT Gene Myotilinopathy?
What are the symptoms of MYOT gene myotilinopathy?
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Is home sample collection available for the MYOT Gene NGS Genetic Test?
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