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CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test

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CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test

Short Name: CAV3 LGMD NGS Test

Also known as: LGMD1C, Caveolin-3 related muscular dystrophy

CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C 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 TestAll Ages🏠 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

The purpose of the CAV3 Gene Limb-girdle muscular dystrophy NGS Genetic Test is to identify pathogenic mutations in the CAV3 gene that cause autosomal dominant type 1C LGMD. This test aids in confirming diagnosis, differentiating from other muscular dystrophies, and providing information for genetic counseling and family planning.

Test Code
1665
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

Genetic counseling to assess family history and draw a pedigree chart. Provide clinical details of the patient.

Method: Phlebotomy or FTA card

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop on FTA card for DNA extraction.

Step 3

Report Delivery

Apply pressure to the puncture site. Bandage if necessary.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to understand implications.
2
During the Test:Sample processed in accredited laboratory using NGS technology.
3
After the Test:Results reviewed by geneticist and reported with interpretation.

About This Test

Who Should Get This Test

The purpose of the CAV3 Gene Limb-girdle muscular dystrophy NGS Genetic Test is to identify pathogenic mutations in the CAV3 gene that cause autosomal dominant type 1C LGMD. This test aids in confirming diagnosis, differentiating from other muscular dystrophies, and providing information for genetic counseling and family planning.

How to Prepare

  • Complete the clinical history form
  • Attend genetic counseling session
  • Ensure sample is properly labeled

Doctor's Notes

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

"Genetic testing for CAV3 mutations is essential for accurate diagnosis and management of LGMD1C, enabling personalized care and family screening."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodPhlebotomy or FTA card

Sample Stability

Blood: 24 hours at room temperature
DNA extract: stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Incorrect labeling
  • Insufficient sample volume

Understanding Your Results

Test results are interpreted based on the detection of pathogenic variants in the CAV3 gene.
📊

Positive

Pathogenic variant detected, confirming CAV3-related LGMD1C

Action: Consult geneticist for management and family screening

📊

Negative

No pathogenic variants detected

Action: Consider other diagnoses if symptoms persist

📊

VUS

Variant of uncertain significance

Action: Further testing or genetic counseling recommended

⚠️ When to Consult a Doctor:

If experiencing symptoms such as progressive muscle weakness, or if there is a family history of muscular dystrophy, consult a neurologist or geneticist immediately.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires clinical correlation
  • ⚠Not diagnostic for other forms of muscular dystrophy

Risks & Considerations

  • ●Minimal: slight pain or bruising from blood draw
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Hemolyzed blood sample
  • ●Insufficient DNA quantity
  • ●Contamination during sample handling

Compare With Similar Tests

TestCAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test
ComparisonCAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C NGS Genetic Test

Frequently Asked Questions

What is CAV3 Gene Limb-girdle muscular dystrophy?
CAV3 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1C, is a rare genetic disorder caused by mutations in the CAV3 gene, leading to progressive muscle weakness in the limbs and torso.
What are the common symptoms?
Symptoms include muscle weakness in shoulders, hips, and thighs, difficulty walking, climbing stairs, frequent falls, and possible heart abnormalities.
How is this condition diagnosed?
Diagnosis involves physical examination, family history, electromyography, muscle biopsy, and genetic testing to identify mutations in the CAV3 gene.
What is NGS genetic testing?
Next-generation sequencing (NGS) is an advanced genetic test that can accurately detect mutations in DNA sequences, used here to identify CAV3 gene variants.
What is the cost of the CAV3 Gene LGMD NGS test in India?
The test costs approximately INR 20000 at DNA Labs India, with potential discounts for online bookings.
Is home sample collection available?
Yes, free home sample collection is available for this test across many cities in India.
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 muscular dystrophy, a family history of LGMD, or those requiring genetic counseling for family planning.
Are there any risks to genetic testing?
Risks are minimal, usually limited to discomfort from blood draw, but genetic results may have emotional implications.
How are the test results interpreted?
Results indicate presence or absence of pathogenic variants in the CAV3 gene, with positive results confirming diagnosis and negative results requiring further clinical evaluation.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to understand the test implications and family history.
What are the treatment options for CAV3 Gene LGMD?
While there is no cure, management includes physical therapy, cardiac monitoring, and supportive care. Early diagnosis helps in planning appropriate interventions.
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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