LAMA2 Gene Muscular dystrophy type 1A NGS Genetic Test
Short Name: LAMA2 NGS Genetic Test
Also known as: LAMA2-Related Congenital Muscular Dystrophy, MDC1A, Merosin-Deficient Congenital Muscular Dystrophy, Laminin Alpha-2 Deficiency
LAMA2 Gene Muscular dystrophy type 1A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Illumina Next Generation Sequencing, Sanger Confirmation on Blood or Extracted DNA or One Drop Blood on FTA Card samples. Results in Results are typically available 3-4 weeks after the sample reaches the laboratory. The report will be shared via the chosen delivery mode (online portal, email, or WhatsApp) and may include raw data files upon request.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this NGS genetic test is to identify pathogenic variants in the LAMA2 gene that cause muscular dystrophy type 1A. It aids in confirming a clinical diagnosis, determining carrier status, and providing essential information for family planning and genetic counseling. Early genetic diagnosis also helps guide clinical management and surveillance for respiratory and cardiac complications.
- Test Code
- 4353
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One Drop Blood on FTA Card
- Result Time
- Results are typically available 3-4 weeks after the sample reaches the laboratory. The report will be shared via the chosen delivery mode (online portal, email, or WhatsApp) and may include raw data files upon request.
- Fasting Required
- No
- Method
- Illumina Next Generation Sequencing, Sanger Confirmation
Sample Collection
No fasting is required. Please provide a detailed clinical history, medication list, and a family pedigree chart if available. A genetic counseling session is recommended before the test to address any concerns.
Method: Venipuncture or FTA Card Spot
Laboratory Analysis
A blood sample is collected by venipuncture into an EDTA tube. If an FTA card is used, a single drop of blood is applied to the marked circles and allowed to air dry. Extracted DNA samples can also be submitted.
Report Delivery
No specific precautions required. The sample will be transported to the DNA Labs India processing facility. The patient can resume normal activities immediately.
Timeline: Results are typically available 3-4 weeks after the sample reaches the laboratory. The report will be shared via the chosen delivery mode (online portal, email, or WhatsApp) and may include raw data files upon request.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify pathogenic variants in the LAMA2 gene that cause muscular dystrophy type 1A. It aids in confirming a clinical diagnosis, determining carrier status, and providing essential information for family planning and genetic counseling. Early genetic diagnosis also helps guide clinical management and surveillance for respiratory and cardiac complications.
How to Prepare
- Ensure the specimen is labeled with the patient’s full name, date of birth, and unique identification number.
- For FTA cards, dry at room temperature for at least 2 hours, then place in the provided sealed pouch with desiccant.
- For EDTA blood, mix gently to prevent clotting and maintain at 2-8°C during transport.
- Do not freeze whole blood samples.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"This genetic test is essential for couples at risk of having a child with LAMA2 muscular dystrophy. It provides clarity for reproductive decision-making and allows prenatal or preimplantation genetic testing options."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Insufficient DNA quantity (< 500 ng)
- Degraded DNA (e.g., from prolonged transit)
- Mislabeled or unlabeled specimen
- Incorrect anticoagulant (e.g., heparin tube)
Understanding Your Results
Positive: Pathogenic or likely pathogenic variant(s) identified
Confirms the diagnosis of LAMA2-related muscular dystrophy type 1A. Genetic counseling and targeted family testing are recommended.
Negative: No pathogenic variants detected
Does not exclude the diagnosis; other genetic causes or non-genetic etiologies may be considered. Further testing may be needed.
Uncertain: Variant(s) of uncertain significance (VUS) identified
The variant is not yet proven to cause disease. Additional familial segregation analysis, functional studies, or updated variant classification may be required.
Consult a neurologist or clinical geneticist if the patient shows progressive muscle weakness, hypotonia, delayed motor milestones, or elevated creatine kinase. If there is a known family history of LAMA2-related muscular dystrophy, seek genetic counseling and testing before planning a pregnancy.
Limitations
- ⚠NGS does not reliably detect large deletions/duplications, repeat expansions, or structural rearrangements; additional MLPA or chromosomal microarray may be needed.
- ⚠Variants in deep intronic regions or regulatory elements may not be captured by targeted NGS.
- ⚠Analysis limited to the LAMA2 gene may miss mutations in other genes causing a similar phenotype.
- ⚠Variants classified as uncertain significance (VUS) may require further functional studies or family segregation analysis.
Risks & Considerations
- ●Minimal risk of bruising, bleeding, or infection at the venipuncture site
- ●Possible emotional stress or psychological impact due to a genetic diagnosis
- ●Risk of incidental findings unrelated to the test indication
- ●Anxiety while awaiting results
Interfering Factors
- ●Sample degradation due to prolonged transit or high temperature exposure
- ●Low quality DNA (e.g., extracted from formalin-fixed tissue)
- ●Maternal cell contamination in prenatal samples
- ●High GC regions with insufficient sequencing coverage
- ●Presence of pseudogenes or highly homologous sequences affecting variant calling
Compare With Similar Tests
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| Comparison | LAMA2 Gene Muscular dystrophy type 1A NGS Genetic Test |
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