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CAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic Test

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CAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic Test

Short Name: CAPN3 Gene LGMD2A NGS Test

Also known as: LGMD2A, Calpainopathy, Limb-girdle muscular dystrophy type 2A

CAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the CAPN3 gene for accurate diagnosis of Limb-girdle muscular dystrophy type 2A (LGMD2A), enabling genetic counseling, carrier testing, and informed clinical management.

Test Code
1669
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS Technology
Step 1

Sample Collection

No fasting required. Provide clinical history and family pedigree chart for accurate analysis.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample processed in accredited laboratory with strict quality controls.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult a neurologist for referral. Provide detailed medical and family history.
2
During the Test:Sample collection via blood draw or FTA card; minimal discomfort.
3
After the Test:Sample analyzed in lab; results delivered in 3-4 weeks with genetic counseling.

About This Test

Who Should Get This Test

To identify mutations in the CAPN3 gene for accurate diagnosis of Limb-girdle muscular dystrophy type 2A (LGMD2A), enabling genetic counseling, carrier testing, and informed clinical management.

How to Prepare

  • Ensure sample is collected in sterile conditions
  • Label sample correctly with patient details
  • Transport sample at ambient temperature if using blood on FTA card

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"This NGS genetic test is crucial for confirming LGMD2A diagnosis, guiding family counseling, and informing management strategies for patients with progressive muscle weakness."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed or clotted blood sample
  • Insufficient sample volume
  • Improper labeling or missing patient information

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the CAPN3 gene. Genetic counseling is recommended to understand implications for the patient and family.
📊

Pathogenic variant detected

Confirms diagnosis of LGMD2A; carrier testing for family members advised

Action: Consult neurologist for management plan

📊

No pathogenic variant detected

LGMD2A less likely; consider other genetic tests or clinical evaluation

Action: Discuss with physician for further diagnostic steps

⚠️ When to Consult a Doctor:

Consult a neurologist if experiencing progressive muscle weakness, frequent falls, or family history of muscular dystrophies, and after receiving test results for interpretation and management.

Limitations

  • ⚠May not detect all possible mutations due to technical constraints
  • ⚠Results require correlation with clinical symptoms and family history
  • ⚠Does not assess for other genetic conditions or modifiers

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic results; counseling recommended

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Recent blood transfusion affecting DNA integrity
  • ●Incorrect sample storage or handling

Compare With Similar Tests

TestCAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic Test
ComparisonCAPN3 Gene Limb-girdle muscular dystrophy, autosomal recessive type 2A NGS Genetic TestFocuses on Duchenne/Becker muscular dystrophy; different gene and inheritance patternTests multiple genes associated with limb-girdle dystrophies; broader scope but higher cost

Frequently Asked Questions

What is the CAPN3 Gene Limb-girdle muscular dystrophy NGS Genetic Test?
It is a Next-Generation Sequencing test to detect mutations in the CAPN3 gene causing autosomal recessive type 2A limb-girdle muscular dystrophy (LGMD2A).
What are the symptoms of LGMD2A?
Common symptoms include muscle weakness in hips and shoulders, difficulty walking, frequent falls, joint stiffness, and progressive muscle wasting.
How is the test performed?
A blood sample or DNA is collected and analyzed using NGS technology to identify variants in the CAPN3 gene.
What is the cost of this genetic test?
The test costs INR 20,000 at DNA Labs India, inclusive of sample collection and report.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider this test?
Individuals with symptoms of LGMD2A, family history of the condition, or elevated creatine kinase levels should consider testing.
What are the benefits of NGS genetic testing?
Benefits include high accuracy, detection of multiple mutations simultaneously, faster results, and cost-effectiveness compared to traditional methods.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for this test.
What if a mutation is detected?
If a pathogenic mutation is found, it confirms LGMD2A diagnosis. Genetic counseling is recommended for the patient and family.
Can this test be used for carrier testing?
Yes, it can identify carriers of CAPN3 mutations, which is useful for family planning and counseling.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Psychological impacts may occur; genetic counseling is advised.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

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✓ 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.

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