LGMD NGS Panel Test
Also known as: LGMD Genetic Panel, Limb-Girdle Muscular Dystrophy NGS Panel, Muscular Dystrophy Genetic Test
LGMD NGS Panel Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood samples. Results in Results are typically available within 21-28 days after the sample reaches the laboratory. You will be notified via email or SMS when the report is ready.. 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 LGMD NGS Panel is to identify the specific genetic mutation responsible for LGMD in an individual. This information is crucial for confirming the diagnosis, determining the subtype, predicting disease progression, and enabling informed reproductive decisions. The panel also helps differentiate LGMD from other neuromuscular disorders with similar clinical presentations, such as Becker muscular dystrophy or inflammatory myopathies. By providing a definitive genetic diagnosis, the test facilitates personalized treatment plans, including appropriate physical therapy, respiratory support, and cardiac monitoring. Additionally, it allows for cascade testing of family members and prenatal diagnosis in affected families.
- Test Code
- 6299
- CPT Code
- 81408
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results are typically available within 21-28 days after the sample reaches the laboratory. You will be notified via email or SMS when the report is ready.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No special preparation is required. Inform your doctor about any medications or supplements you are taking. Avoid blood transfusion for at least 2 weeks prior to the test if possible.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in your arm. The procedure is quick and minimally invasive.
Report Delivery
You may resume normal activities immediately. There is no special care required after the blood draw.
Timeline: Results are typically available within 21-28 days after the sample reaches the laboratory. You will be notified via email or SMS when the report is ready.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the LGMD NGS Panel is to identify the specific genetic mutation responsible for LGMD in an individual. This information is crucial for confirming the diagnosis, determining the subtype, predicting disease progression, and enabling informed reproductive decisions. The panel also helps differentiate LGMD from other neuromuscular disorders with similar clinical presentations, such as Becker muscular dystrophy or inflammatory myopathies. By providing a definitive genetic diagnosis, the test facilitates personalized treatment plans, including appropriate physical therapy, respiratory support, and cardiac monitoring. Additionally, it allows for cascade testing of family members and prenatal diagnosis in affected families.
How to Prepare
- No fasting required
- Inform the lab if you have had a blood transfusion in the past 2 weeks
- Ensure the sample is collected in an EDTA tube
- Keep the sample at room temperature if delivered within 24 hours; otherwise refrigerate
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic confirmation of LGMD is crucial for prognosis and family counseling. This panel covers all major LGMD subtypes."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample
- Clotted sample
- Incorrect tube (e.g., heparin tube)
- Sample received after 72 hours without proper storage
- Insufficient volume
Understanding Your Results
Positive (Pathogenic variant found)
Confirms LGMD diagnosis; enables subtype-specific management and family testing
Negative (No pathogenic variant found)
LGMD due to tested genes is unlikely; consider other genetic or acquired causes
Variant of Uncertain Significance (VUS)
Further testing of family members or additional functional studies may be needed
Consult your doctor if you experience progressive muscle weakness, difficulty climbing stairs, or frequent falls. Early referral to a neurologist or geneticist is recommended for proper evaluation and testing.
Limitations
- ⚠This panel does not detect all possible genetic causes of LGMD; some rare genes may not be included
- ⚠Variants of uncertain significance (VUS) may be reported and require further investigation
- ⚠NGS may not detect large structural variants or repeat expansions
- ⚠Negative results do not completely rule out LGMD; other genetic or non-genetic causes may be considered
- ⚠Genetic counseling is recommended to interpret results in the context of family history
Risks & Considerations
- ●Minimal risk of bruising or bleeding at the puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Recent blood transfusion may cause mixed DNA results
- ●Bone marrow transplantation can affect genetic results
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by NGS alone
Compare With Similar Tests
| Test | LGMD NGS Panel | Single Gene Testing | Muscle Biopsy | Creatine Kinase (CK) Test |
|---|---|---|---|---|
| Comparison | LGMD NGS Panel | Targets one gene based on clinical suspicion. Less comprehensive, may miss other subtypes. Cost is lower but may require multiple tests. | Invasive procedure that provides protein analysis but cannot identify the specific genetic mutation. Useful when genetic testing is inconclusive. | A blood test that indicates muscle damage but is not specific to LGMD. Elevated CK may prompt genetic testing. |
Frequently Asked Questions
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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.
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