TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test
Short Name: TRIM32 LGMD2H NGS Genetic Test
Also known as: TRIM32 LGMD2H NGS Test, Limb-Girdle Muscular Dystrophy Type 2H Genetic Test, TRIM32 Gene Mutation Analysis
TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-generation sequencing (NGS) for TRIM32 gene variant detection, Confirmatory Sanger sequencing for identified variants (if required) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are made available within 3 to 4 weeks after 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
The primary purpose of the TRIM32 gene NGS genetic test is to identify pathogenic mutations in the TRIM32 gene in individuals with clinical features suggestive of limb-girdle muscular dystrophy type 2H. The results can help confirm a clinical diagnosis, differentiate LGMD2H from other inherited myopathies, guide medical management, establish genetic status in at-risk family members, and provide essential information for reproductive and genetic counseling.
- Test Code
- 4208
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are made available within 3 to 4 weeks after sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next-generation sequencing (NGS) for TRIM32 gene variant detection, Confirmatory Sanger sequencing for identified variants (if required)
Sample Collection
No fasting is required. Patient should carry any previous clinical records, muscle biopsy reports, creatine kinase values, and family pedigree information. A pre-test genetic counseling session may be scheduled.
Method: Peripheral blood collection by venipuncture or FTA card dried blood spot
Laboratory Analysis
For blood sample collection, standard venipuncture procedure is followed. For FTA card samples, a drop of blood from a finger-prick or venipuncture is applied to the marked spots.
Report Delivery
No special precautions are needed after sample collection. Patients can resume normal diet and activities immediately.
Timeline: Reports are made available within 3 to 4 weeks after sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The primary purpose of the TRIM32 gene NGS genetic test is to identify pathogenic mutations in the TRIM32 gene in individuals with clinical features suggestive of limb-girdle muscular dystrophy type 2H. The results can help confirm a clinical diagnosis, differentiate LGMD2H from other inherited myopathies, guide medical management, establish genetic status in at-risk family members, and provide essential information for reproductive and genetic counseling.
How to Prepare
- Use EDTA vacutainer for whole blood sample collection; do not use heparin.
- If FTA card is used, allow the blood spots to air dry completely before packing in the supplied envelope.
- Store extracted DNA sample in a sterile, labelled microtube with proper DNA concentration and purity information.
- Affix patient name, date of birth and collection date clearly on the sample.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Confirming the genetic basis of limb-girdle muscular dystrophy is essential for accurate recurrence-risk counseling, especially for families planning children."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed sample with severe cell lysis
- Insufficient sample quantity
- Improperly labelled or unlabeled sample
- Sample in an improper transport medium
- Clotted blood sample when extracted specimen was requested
- Sample received in heparinized tube when EDTA was requested
Understanding Your Results
Pathogenic variant identified
Confirms the genetic diagnosis of TRIM32-related limb-girdle muscular dystrophy type 2H. Recommend medical follow-up and family segregation studies.
Likely pathogenic variant identified
Highly suggestive of disease causation; additional clinical correlation and/or family studies may be advised.
Variant of uncertain significance (VUS)
A genetic change with unclear clinical significance. Additional family testing and functional studies may help clarify its role.
No pathogenic mutation detected
This may still not exclude LGMD due to other genes or non-coding and structural alterations. Consider broader NGS panel or further evaluation.
Consult a neurologist or clinical geneticist if you or your child experience progressive proximal muscle weakness, frequent falls, difficulty climbing stairs, difficulty rising from the floor, or if there is a family history of limb-girdle muscular dystrophy.
Limitations
- ⚠NGS may not detect all types of TRIM32 mutations, including large structural rearrangements unless specifically analyzed.
- ⚠A variant of uncertain significance (VUS) may be reported; this does not always establish or exclude the clinical diagnosis.
- ⚠Results should be interpreted by a clinical geneticist or neurologist in the context of the patient's full clinical picture.
- ⚠This test is not a substitute for a detailed neuromuscular clinical evaluation.
- ⚠Genetic counselling is strongly recommended before and after testing.
Risks & Considerations
- ●Minor pain, bruising, or bleeding at the venipuncture site
- ●Very low risk of infection at the needle puncture site
- ●Psychological or emotional distress due to genetic findings
- ●Risk of unexpected or predictive findings in a genetic test
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination of sample during collection or handling
- ●Sample mix-up or incorrect patient labelling
- ●Large deletions or duplications that may require additional methods beyond sequencing
- ●Mutations in deep intronic regions or regulatory elements that may not be detected by standard NGS
Compare With Similar Tests
| Test | TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test | TRIM32 Single-Gene NGS Analysis | Limb-Girdle Muscular Dystrophy Multi-Gene NGS Panel | Comprehensive Neuromuscular NGS Panel |
|---|---|---|---|---|
| Comparison | TRIM32 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2H NGS Genetic Test |
Frequently Asked Questions
What is the TRIM32 gene LGMD2H NGS genetic test?
Which sample is needed for the TRIM32 NGS test?
Is fasting required before the TRIM32 genetic test?
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What is the cost of the TRIM32 LGMD2H NGS genetic test?
What does a positive result mean?
What does a negative result mean?
What is a variant of uncertain significance?
Why should I ask for raw data, FASTQ and VCF files?
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