LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test
Short Name: LARGE1 NGS Muscular Dystrophy Test
Also known as: LARGE1 Gene Muscular Dystrophy Type 1D Genetic Test, LARGE1 Gene NGS Analysis, Muscular Dystrophy Type 1D NGS Test
LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in The genetic test report is delivered in 3 to 4 weeks after sample receipt. Raw data files are provided with the final clinical report.. 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 this NGS genetic test is to identify clinically significant variants in the LARGE1 gene, confirming the diagnosis of Muscular Dystrophy Type 1D in symptomatic individuals and enabling predictive testing in at-risk family members when appropriate.
- Test Code
- 4348
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The genetic test report is delivered in 3 to 4 weeks after sample receipt. Raw data files are provided with the final clinical report.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No fasting is required. An informed consent process and genetic counselling session will be completed. Patients should bring their clinical history, any prior muscle biopsy or EMG findings, and information about affected family members.
Method: Venipuncture / FTA card spot
Laboratory Analysis
A blood sample is taken from the arm by a trained phlebotomist. Alternatively, a single drop of blood may be collected on an FTA card. The sample is labeled and sent to the laboratory for DNA extraction and NGS analysis.
Report Delivery
The laboratory will process the sample and perform sequence analysis. Once completed, the clinical report and raw data files are shared with the patient and the referring physician. A post-test genetic counselling session is arranged to explain the result.
Timeline: The genetic test report is delivered in 3 to 4 weeks after sample receipt. Raw data files are provided with the final clinical report.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify clinically significant variants in the LARGE1 gene, confirming the diagnosis of Muscular Dystrophy Type 1D in symptomatic individuals and enabling predictive testing in at-risk family members when appropriate.
How to Prepare
- Please provide informed consent before sample collection.
- No fasting is required for this test.
- For blood sample, collect in EDTA vacutainer.
- If using FTA card, apply one drop of blood and let it dry.
- Label the sample with patient ID and collection date.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is typically ordered by a neurologist when clinical evaluation suggests an inherited myopathy. Confirming a LARGE1 gene variant can help distinguish type 1D from other muscular dystrophy subtypes, guide surveillance, and enable risk assessment for family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Sample received in improper container or without anticoagulant.
- Hemolysed or clotted blood.
- Unsuitable or contaminated FTA card.
- Unlabeled or incorrectly labeled sample.
- Insufficient sample quantity.
Understanding Your Results
No pathogenic variant detected
Negative for LARGE1-related muscular dystrophy type 1D in the analyzed regions.
Pathogenic/likely pathogenic variant detected
Supports the clinical diagnosis of LARGE1-related muscular dystrophy type 1D.
Variant of uncertain significance (VUS)
Variant found but clinical significance is not yet established; further studies/family testing may be required.
See a neurologist or clinical geneticist if you have progressive muscle weakness, difficulty with daily activities, recurrent falls, or a family history of muscular dystrophy. Early genetic testing can help with diagnosis and management planning.
Risks & Considerations
- ●No major physical risks associated with blood sample collection; slight bruising or pain at the puncture site.
- ●Genetic test results can identify variants of uncertain significance, which may require additional testing.
- ●Diagnosis may carry psychological impact for the patient and family.
Compare With Similar Tests
| Test | LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test | ||
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| Comparison | LARGE1 Gene Muscular dystrophy type 1D NGS Genetic Test |
Frequently Asked Questions
What is the cost of LARGE1 Gene Muscular Dystrophy Type 1D NGS Genetic Test at DNA Labs India?
What sample types are accepted for this NGS genetic test?
Is fasting required before the test?
When will I get the test report?
Why should I take the LARGE1 gene test for muscular dystrophy type 1D?
Does the test include genetic counselling?
Will I receive raw data files?
Who is advised to undergo this genetic test?
How is the NGS genetic test performed?
What does a negative result mean?
Is a blood sample enough for testing?
How should I prepare for the test?
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