MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test
Short Name: MYOT Gene LGMD Type 1A NGS Test
Also known as: LGMD1A Genetic Test, Myotilinopathy Genetic Test, Limb-Girdle Muscular Dystrophy Type 1A DNA Test, Autosomal Dominant LGMD Gene Panel, MYOT Mutation Analysis
MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing (for variant confirmation), Bioinformatics Pipeline Analysis, ACMG Variant Classification 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 SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
This test is performed to identify pathogenic or likely pathogenic variants in the MYOT gene that cause autosomal dominant limb-girdle muscular dystrophy type 1A. The purpose includes confirming a suspected clinical diagnosis, differentiating LGMD1A from other muscular dystrophies with similar presentations, enabling carrier identification in at-risk family members, supporting genetic counselling and family planning decisions, and guiding clinical management including physiotherapy, respiratory care, and cardiac monitoring strategies.
- Test Code
- 1667
- 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), Sanger Sequencing (for variant confirmation), Bioinformatics Pipeline Analysis, ACMG Variant Classification
Sample Collection
No special preparation such as fasting is required. Ensure that the patient has not received a blood transfusion within the past 4 weeks. Provide a complete clinical history and family pedigree chart. A genetic counselling session is recommended prior to sample collection.
Method: Venipuncture / FTA Card finger-prick
Laboratory Analysis
A trained phlebotomist will collect approximately 3-5 mL of venous blood in an EDTA (lavender-top) tube under sterile conditions. Alternatively, a single drop of blood can be applied to an FTA card. Ensure proper labelling of the specimen with patient identifiers.
Report Delivery
The sample will be transported at ambient room temperature to the laboratory. Online booking includes free home sample collection. Results will be available within 3 to 4 weeks and delivered via the online portal, email, or WhatsApp.
Timeline: 3 to 4 Weeks from sample receipt at the laboratory
Patient Instructions
About This Test
Who Should Get This Test
This test is performed to identify pathogenic or likely pathogenic variants in the MYOT gene that cause autosomal dominant limb-girdle muscular dystrophy type 1A. The purpose includes confirming a suspected clinical diagnosis, differentiating LGMD1A from other muscular dystrophies with similar presentations, enabling carrier identification in at-risk family members, supporting genetic counselling and family planning decisions, and guiding clinical management including physiotherapy, respiratory care, and cardiac monitoring strategies.
How to Prepare
- Collect 3-5 mL of venous blood in an EDTA (lavender-top) vacutainer tube
- Alternatively, apply one drop of blood on the provided FTA card and allow it to dry completely
- Label the specimen clearly with the patient's full name, date of birth, and unique identifier
- Do not use heparin as an anticoagulant as it may interfere with DNA extraction
- Transport the sample at ambient room temperature; avoid extreme heat or cold
- If extracted DNA is being submitted, provide at least 1 µg of DNA with A260/A280 ratio of 1.7–2.0
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Limb-girdle muscular dystrophy type 1A is a progressive autosomal dominant disorder caused by pathogenic variants in the MYOT gene encoding myotilin. Clinical onset typically occurs in adulthood with proximal muscle weakness involving the hip and shoulder girdle, often accompanied by dysphagia and respiratory compromise in later stages. NGS-based comprehensive sequencing of the MYOT gene allows precise identification of causative variants, enabling accurate diagnosis, genetic counselling for at-risk family members, and differentiation from other LGMD subtypes with overlapping phenotypes. Early molecular diagnosis is critical for initiating appropriate multidisciplinary management including physiotherapy, respiratory monitoring, and cardiac surveillance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Specimen received without proper patient identification or labelling
- Heparinised blood sample (EDTA or FTA card required)
- Clotted, haemolysed, or severely degraded blood sample
- Specimen received at temperatures exceeding acceptable limits
- Insufficient sample volume or DNA quantity
- Specimen received after stability window has expired
- Missing or incomplete consent form where required
Understanding Your Results
A pathogenic variant in the MYOT gene was identified, confirming the molecular diagnosis of LGMD1A. Genetic counselling is recommended for the patient and at-risk family members. Surveillance for respiratory and cardiac complications should be initiated.
Result type: Pathogenic Variant Detected
A likely pathogenic variant in the MYOT gene was identified. The diagnosis of LGMD1A is strongly supported. Family segregation studies and clinical correlation are recommended to strengthen the classification.
Result type: Likely Pathogenic Variant Detected
A variant in the MYOT gene of uncertain clinical significance was detected. This result is not diagnostic. Clinical correlation, family segregation analysis, and functional studies may be needed for variant reclassification.
Result type: Variant of Uncertain Significance (VUS)
No pathogenic or likely pathogenic variants were identified in the MYOT gene. This result does not exclude other forms of limb-girdle muscular dystrophy or other neuromuscular disorders. Additional genetic testing for other LGMD-related genes may be considered based on clinical presentation.
Result type: No Pathogenic Variant Detected
Consult a neurologist or neuromuscular specialist if you or a family member experiences progressive proximal muscle weakness, difficulty walking or climbing stairs, frequent falls, difficulty raising arms above the head, unexplained muscle pain, stiffness, or elevated creatine kinase levels. If the test result identifies a pathogenic variant or a variant of uncertain significance, seek genetic counselling for interpretation and family risk assessment. Immediate medical attention is warranted if respiratory or swallowing difficulties develop.
Limitations
- ⚠This test does not detect large genomic rearrangements, copy number variations (CNVs), or deep intronic variants unless specifically included in the analysis panel
- ⚠Variants of uncertain significance (VUS) may be identified, requiring clinical correlation and possible family segregation studies
- ⚠Negative result does not exclude other genetic causes of limb-girdle muscular dystrophy involving different genes
- ⚠Mosaicism at low levels may not be reliably detected by standard NGS methodology
- ⚠Regulatory and promoter region variants outside the sequenced regions are not assessed
Risks & Considerations
- ●Minor bruise or discomfort at the blood collection site
- ●Very rare risk of infection at the venipuncture site
- ●Psychological impact of genetic test results; genetic counselling is recommended before and after testing
- ●Risk of identifying variants of uncertain significance which may cause anxiety without providing a definitive diagnosis
Interfering Factors
- ●Degraded or insufficient DNA quality may affect sequencing accuracy
- ●Recent blood transfusion within the past 4 weeks may interfere with results
- ●Sample contamination during collection or transport
- ●Heparin anticoagulant may interfere with DNA extraction; EDTA is preferred
- ●Specimen stored at improper temperature before processing
Compare With Similar Tests
| Test | MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test | Limb-Girdle Muscular Dystrophy Gene Panel (Comprehensive) | Dystrophin Gene Sequencing (Duchenne/Becker MD) | Whole Exome Sequencing (WES) | Muscle Biopsy with Immunohistochemistry |
|---|---|---|---|---|---|
| Comparison | MYOT Gene Limb-girdle muscular dystrophy, autosomal dominant type 1A NGS Genetic Test |
Frequently Asked Questions
What is the MYOT gene and how is it related to limb-girdle muscular dystrophy type 1A?
What is the cost of the MYOT Gene LGMD1A NGS Genetic Test in India?
How is the MYOT Gene LGMD1A NGS Genetic Test performed?
What sample is required for this genetic test?
How long does it take to receive the results?
What are the symptoms of MYOT gene limb-girdle muscular dystrophy type 1A?
Is home sample collection available for this test?
What does a negative test result mean?
What is the difference between this test and a comprehensive LGMD gene panel?
Can this test be used for carrier detection in family members?
Is genetic counselling provided with this test?
Does DNA Labs India provide raw data files along with the clinical report?
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