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DNA Labs India

CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic Test

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CAV3 Gene Myopathy, distal, Tateyama type NGS Genetic Test

Short Name: CAV3 NGS Test

Also known as: Caveolin-3 gene mutation test, Distal Tateyama myopathy NGS panel, CAV3 myopathy genetic test

CAV3 Gene Myopathy, distal, Tateyama type 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 Reports are typically delivered within 3 to 4 weeks after the laboratory receives the sample.. 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 detect pathogenic mutations in the CAV3 gene using next-generation sequencing technology, confirming a diagnosis of CAV3 Gene Myopathy, distal Tateyama type.

Test Code
4373
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are typically delivered within 3 to 4 weeks after the laboratory receives the sample.
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting or special preparation needed. Please carry a valid ID and referral if available. A genetic counseling session is recommended before testing.

Method: Venipuncture or finger-prick blood spot on FTA card

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample in an EDTA vacutainer. Alternatively, a single drop of blood may be placed on the FTA card.

Step 3

Report Delivery

You may leave immediately after sample collection. No dietary or activity restrictions apply.

Timeline: Reports are typically delivered within 3 to 4 weeks after the laboratory receives the sample.

Patient Instructions

1
Before the Test:No special preparation is needed. A genetic counseling session may be advised to obtain informed consent and understand the implications of testing.
2
During the Test:The sample is collected by a phlebotomist. The procedure is quick and causes minimal discomfort.
3
After the Test:You can resume normal activities immediately. Your sample is transported to the laboratory for NGS analysis.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the CAV3 gene using next-generation sequencing technology, confirming a diagnosis of CAV3 Gene Myopathy, distal Tateyama type.

How to Prepare

  • Blood to be collected in EDTA vacutainer (2-3 mL)
  • Or, place one drop of blood on the designated FTA card
  • For extracted DNA, submit at least 1 μg of qualified DNA in a sterile vial
  • Label sample with patient name, date of birth, and collection date

Doctor's Notes

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

"Genetic testing for CAV3 myopathy can clarify the diagnosis in patients presenting with distal muscle weakness and guide family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-3 mL whole blood or as required for FTA card
ContainerEDTA vacutainer / FTA card
Collection MethodVenipuncture or finger-prick blood spot on FTA card

Sample Stability

Whole blood in EDTA
Whole blood in EDTA
FTA card blood spot
Sample Rejection Criteria:
  • Hemolyzed or coagulated blood
  • Insufficient sample volume
  • Improperly labeled sample
  • Suspected sample contamination
  • Exposure to extreme temperatures during transport

Understanding Your Results

The CAV3 gene encodes caveolin-3, a protein essential for normal muscle membrane structure and function. Pathogenic mutations in this gene cause a spectrum of musculoskeletal phenotypes, including distal Tateyama myopathy. Results are interpreted by a clinical geneticist.
Pathogenic variant detected: Confirms diagnosis of CAV3 myopathy; predictive testing for at-risk family members is possible.
Likely pathogenic variant detected: High probability of disease; further segregation testing in family members may be useful.
Variant of uncertain significance (VUS): Cannot determine pathogenicity; additional testing or family analysis may be needed.
No pathogenic variant detected: No CAV3 mutation identified; consider other genetic causes of distal myopathy.
⚠️ When to Consult a Doctor:

Consult a neurologist or clinical geneticist if you or a family member experiences progressive muscle weakness in hands/feet, unexplained cramps, or if there is a known family history of CAV3 myopathy.

Limitations

  • ⚠This test is limited to mutations in the CAV3 gene, including coding regions and consensus splice sites.
  • ⚠Regulatory region mutations, deep intronic variants, and large structural rearrangements may not be identified.
  • ⚠A negative result does not exclude hereditary myopathy caused by other genes.

Risks & Considerations

  • ●Minimal discomfort during blood draw
  • ●Possible bruising or bleeding at the puncture site

Interfering Factors

  • ●Poor DNA quality or quantity from the sample
  • ●Cross-contamination with another individual's DNA
  • ●Very rare large deletions or duplications in CAV3 may not be detected by standard NGS

Frequently Asked Questions

What is CAV3 gene myopathy distal Tateyama type?
CAV3 gene myopathy distal Tateyama type is a rare inherited muscle disorder caused by mutations in the CAV3 gene, leading to progressive distal muscle weakness, especially in the hands and feet.
What is the cost of the CAV3 Gene NGS genetic test?
The test costs INR 20,000 at DNA Labs India, including a free home sample collection visit when booked online.
What type of sample is needed for CAV3 NGS testing?
A blood sample in an EDTA tube, extracted DNA, or a single blood spot on an FTA card is accepted.
How long will the reports take?
Results are generally ready within 3 to 4 weeks from the time the sample is received at the laboratory.
Is fasting required for this genetic test?
No, fasting is not required for the CAV3 NGS test.
Does DNA Labs India offer home sample collection for this test?
Yes, home sample collection is provided free of cost in over 100 cities across India when the test is booked online.
Who should consider this CAV3 gene test?
Individuals with unexplained distal muscle weakness, muscle cramping, or a family history of caveolin-related myopathy should consider this test.
Can this test identify all types of myopathy?
No, this test specifically analyzes the CAV3 gene. It will not detect mutations in other myopathy-associated genes.
What do the results mean?
A positive result identifies a pathogenic mutation confirming the diagnosis. A negative result reduces the likelihood of CAV3-related myopathy.
Is genetic counseling necessary before the test?
A genetic counseling session is recommended to discuss the implications, draw a family pedigree, and obtain informed consent.
Is the CAV3 NGS test covered by insurance?
Many insurance policies do not cover genetic tests; coverage depends on the plan. Contact your insurance provider for details.
What is the reference range for this test?
There is no numeric reference range; the test identifies the presence or absence of pathogenic variants in the CAV3 gene.
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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