MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic Test
Short Name: MTAP Gene NGS Test
Also known as: MTAP Gene Sequencing, Limb Girdle Muscular Dystrophy with Bone Fragility Genetic Test, MTAP Gene Myopathy NGS Test
MTAP Gene Myopathy, limb girdle with bone fragility 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 clinical report and raw data files (FASTQ and VCF) will be delivered within 3 to 4 weeks after the sample is received 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 NGS genetic test is done to confirm the clinical diagnosis of MTAP gene myopathy, identify pathogenic variants in the MTAP gene, establish carrier status in at-risk family members, and provide information for reproductive and prenatal planning.
- Test Code
- 4383
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- The clinical report and raw data files (FASTQ and VCF) will be delivered within 3 to 4 weeks after the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is needed. A pre-test genetic counselling session is recommended; please bring relevant clinical notes, prior genetic test reports, and a family pedigree chart.
Method: Venipuncture or dried blood spot on FTA card
Laboratory Analysis
Sample collection takes only a few minutes. Blood will be drawn from a vein, or a few drops of blood may be placed on the FTA card if a dried blood spot kit is used.
Report Delivery
You can resume normal activities immediately. The lab will process the sample and share the report in 3 to 4 weeks.
Timeline: The clinical report and raw data files (FASTQ and VCF) will be delivered within 3 to 4 weeks after the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
This NGS genetic test is done to confirm the clinical diagnosis of MTAP gene myopathy, identify pathogenic variants in the MTAP gene, establish carrier status in at-risk family members, and provide information for reproductive and prenatal planning.
How to Prepare
- No fasting is required. Patients can eat and drink normally before sample collection.
- Continue all medications as advised by the treating doctor unless instructed otherwise.
- Carry identity proof, clinical history, and any previous genetic reports to the collection centre.
- If using an FTA card, follow the kit instructions and allow the blood spot to dry completely.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"When a patient presents with proximal muscle weakness and recurrent fractures, MTAP gene testing should be considered after a complete neuromuscular and skeletal evaluation."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted or hemolyzed blood sample
- Contaminated sample
- Mislabelled sample
- Sample without signed consent or clinical requisition
- Sample received beyond the accepted transport stability period
Understanding Your Results
Negative
No pathogenic or likely pathogenic variant detected in the MTAP gene. Genetic cause is not identified in this gene; clinical correlation and further testing may be considered.
Positive - Pathogenic variant detected
A pathogenic variant in the MTAP gene was identified, which confirms the genetic diagnosis. Genetic counselling and targeted family testing are recommended.
Positive - Likely pathogenic variant detected
A likely pathogenic variant was identified. It is highly probable that this variant causes the condition; family segregation and clinical correlation are advised.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is not yet clear. Additional family studies, functional evidence, or gene-specific research may be needed.
Consult a neurologist or clinical geneticist if you or your child have progressive limb girdle weakness, recurrent fractures, difficulty climbing stairs, swallowing problems, or a family history of MTAP gene myopathy.
Limitations
- ⚠Targeted NGS covers the coding region and flanking splice sites of the MTAP gene.
- ⚠Large structural rearrangements, deep intronic variants, methylation defects, and repeat expansions may not be detected.
- ⚠Variant of uncertain significance may require family segregation studies and further evaluation.
- ⚠Clinical correlation with a neurologist or clinical geneticist is essential for correct interpretation.
Risks & Considerations
- ●Minimal discomfort at the blood collection site
- ●Small bruise or swelling
- ●Lightheadedness during or after blood draw
Interfering Factors
- ●Recent allogeneic bone marrow or stem cell transplant
- ●Recent blood transfusion may dilute or introduce donor cells
- ●Sample contamination or improper specimen handling
- ●Mislabelled samples or incomplete clinical requisition
Compare With Similar Tests
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| Comparison | MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic Test |
Frequently Asked Questions
What is MTAP gene myopathy?
What is the cost of the MTAP gene NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
When will I get the report?
Will I receive raw data files with the report?
Can this test be used for carrier testing?
Who should take this genetic test?
How is NGS different from Sanger sequencing?
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Does insurance cover the cost of this test?
Is home sample collection available?
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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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