CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test
Short Name: CAPN3 NGS LGMD2A Test
Also known as: Calpainopathy Genetic Test, CAPN3 Gene Mutation Analysis, LGMD2A Genetic Test
CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Targeted single-gene mutation analysis on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are released within 3 to 4 weeks from the date 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
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the CAPN3 gene, thereby confirming a clinical diagnosis of limb-girdle muscular dystrophy type 2A (calpainopathy) and providing the basis for genetic counselling, family planning, and management decisions.
- Test Code
- 4354
- ICD Code
- G71.0
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are released within 3 to 4 weeks from the date the sample is received at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Targeted single-gene mutation analysis
Sample Collection
No fasting is required. The treating physician may order a genetic counselling session to draw a three-generation family pedigree. The patient should bring previous clinical reports, creatine kinase levels, EMG/NCV findings, and muscle biopsy results if available.
Method: Peripheral venipuncture / FTA card blood spot
Laboratory Analysis
A trained phlebotomist will collect the required blood sample in an EDTA tube. If an FTA card is used, one drop of blood will be applied to the card and allowed to air dry. If extracted DNA is being submitted, it must be in a sterile, labelled tube.
Report Delivery
The sample is transported to the laboratory under appropriate conditions. No post-sampling restrictions are advised. The patient may resume normal activities immediately.
Timeline: Reports are released within 3 to 4 weeks from the date the sample is received at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to detect pathogenic or likely pathogenic variants in the CAPN3 gene, thereby confirming a clinical diagnosis of limb-girdle muscular dystrophy type 2A (calpainopathy) and providing the basis for genetic counselling, family planning, and management decisions.
How to Prepare
- Ensure the patient's name, date of birth, and collection date are clearly written on the label.
- Do not freeze whole blood samples.
- FTA card blood spots must be completely air-dried and stored in a protective pouch.
- If transport is delayed beyond 24 hours, maintain the EDTA blood sample at 2-8°C.
- For extracted DNA, provide sample concentration and purity details if available.
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic counselling before testing is strongly recommended to document family history and confirm appropriate test selection."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Clotted blood sample
- Haemolysed blood sample
- Insufficient quantity of blood or DNA
- Incorrectly labelled sample
- Wet or inadequate FTA card blood spot
Understanding Your Results
Pathogenic or likely pathogenic variant identified
Confirms the molecular diagnosis of limb-girdle muscular dystrophy type 2A in a symptomatic individual.
No pathogenic variant identified
Reduces the likelihood of CAPN3-related LGMD2A, but does not exclude other muscular dystrophy genes.
Variant of uncertain significance identified
Further family segregation analysis and additional genetic counselling are recommended.
If the test identifies a pathogenic or likely pathogenic variant, schedule a follow-up with a clinical geneticist for genetic counselling. If a variant of uncertain significance is reported, consult the ordering physician and consider additional family studies. Continue regular follow-up with a neurologist for muscle weakness symptoms.
Limitations
- ⚠This test is targeted to the CAPN3 gene and will not detect mutations in other genes causing limb-girdle muscular dystrophy.
- ⚠Standard NGS may not reliably detect large exon-level deletions or duplications unless copy-number analysis is specifically included.
- ⚠Some deep intronic variants or regulatory region variants may not be detected by targeted sequencing.
- ⚠Variants of uncertain significance may require further family segregation analysis.
- ⚠A negative result does not exclude all genetic causes of muscular dystrophy.
Risks & Considerations
- ●Mild bruising or temporary discomfort at the blood collection site
- ●Very low risk of infection
- ●Potential psychological anxiety while waiting for genetic test results
Interfering Factors
- ●Clotted or haemolysed blood sample
- ●Inadequate quantity of extracted DNA
- ●Microbial contamination during sample processing
- ●Recent allogeneic bone marrow or stem cell transplant may lead to misleading results
Compare With Similar Tests
| Test | CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test | ||||
|---|---|---|---|---|---|
| Comparison | CAPN3 Gene Muscular dystrophy, limb-girdle type 2A NGS Genetic Test |
Frequently Asked Questions
What is the CAPN3 gene?
What is limb-girdle muscular dystrophy type 2A?
How is the CAPN3 NGS genetic test performed?
Does this test require fasting?
What is the cost of the test?
How long will the reports take?
Which samples are accepted?
Can a positive result confirm LGMD2A?
Can a negative result rule out LGMD2A?
What does a variant of uncertain significance mean?
Do I need genetic counselling?
Is the CAPN3 NGS test covered by insurance?
Related Tests
Angelman Syndrome Test
₹10,000Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test
₹14,000Episodic Ataxia Type 1 Hotspot Test
₹11,500Episodic Ataxia Comprehensive Profile Hotspot Test
₹16,000Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
₹7,500Analyzer 18 SMA 18 Test Panel
₹1,755Reference Laboratory Services
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.