CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test
Short Name: CAV3 CPK NGS Genetic Test
Also known as: CAV3 Gene Sequencing, Caveolin-3 Gene Test, CPK Elevated Serum CAV3 Mutation Analysis, CAV3-related Myopathy Genetic Test
CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger Confirmation (if variant identified) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are typically available in 3 to 4 weeks. A hard copy of the report is also mailed, and the PDF is sent via email and WhatsApp.. 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 identify mutations in the CAV3 gene that cause elevated serum creatine phosphokinase and associated muscular symptoms. The test provides a molecular diagnosis, distinguishes CAV3-related conditions from other myopathies, helps guide treatment and surveillance, and enables accurate genetic counseling for affected families.
- Test Code
- 3984
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are typically available in 3 to 4 weeks. A hard copy of the report is also mailed, and the PDF is sent via email and WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger Confirmation (if variant identified)
Sample Collection
No special preparation such as fasting is required. Kindly provide accurate clinical history and any previous CPK test reports. A genetic counseling session will be performed to draw a pedigree chart.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood is drawn by a trained phlebotomist using standard aseptic technique. For FTA card, a drop of blood from a finger prick may be collected.
Report Delivery
No restrictions. The sample is safely transported to the laboratory at ambient temperature.
Timeline: Results are typically available in 3 to 4 weeks. A hard copy of the report is also mailed, and the PDF is sent via email and WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this NGS genetic test is to identify mutations in the CAV3 gene that cause elevated serum creatine phosphokinase and associated muscular symptoms. The test provides a molecular diagnosis, distinguishes CAV3-related conditions from other myopathies, helps guide treatment and surveillance, and enables accurate genetic counseling for affected families.
How to Prepare
- Blood sample: 5 ml in an EDTA vacuum tube
- FTA card: One drop of blood spotted and air-dried
- Label the sample container with patient ID and date
- Samples should be transported to the lab at room temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is particularly relevant for individuals with unexplained persistent elevated creatine phosphokinase levels and a family history of muscle disorders. Early molecular confirmation allows appropriate management and surveillance for associated cardiac and respiratory complications, and enables accurate recurrence-risk counseling for family members."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed blood sample
- Clotted blood sample when EDTA is required
- Incorrectly labeled container
- Sample leaking in transit
Understanding Your Results
Pathogenic/Likely Pathogenic variant detected
Confirms the diagnosis of a CAV3-related disorder; management and family screening should be considered.
Variant of uncertain significance (VUS) identified
Insufficient evidence to determine clinical impact; further testing (such as segregation analysis) is recommended.
No pathogenic variant detected
CAV3 gene contribution to the patient's condition is unlikely; other genetic or non-genetic causes should be explored.
Consult a clinical geneticist or neurologist if your CPK is persistently elevated without obvious cause, if you have unexplained muscle weakness or cramping, or if a family member has been diagnosed with a CAV3-related myopathy. The physician may recommend this genetic test after a thorough clinical evaluation.
Limitations
- ⚠This test only analyzes the CAV3 gene; other causes of CPK elevation will not be identified
- ⚠Sensitivity is high but not 100% point mutations may not be captured if in deep intronic regions
- ⚠VUS (variants of uncertain significance) may require further segregation analysis
- ⚠The test does not measure the exact serum CPK level; correlation with clinical chemistry results is needed
Risks & Considerations
- ●Minimal risks: slight bleeding or bruising at the blood draw site
- ●Infection risk is extremely low with standard sterile technique
- ●Psychological impact of genetic test result
- ●Test may not provide a definitive diagnosis, leading to continued clinical uncertainty
Interfering Factors
- ●Contamination of sample with DNA from another individual
- ●Incomplete clinical information leading to misinterpretation
- ●Rare non-coding variants not covered by standard NGS may be missed
- ●Large deletions or duplications in CAV3 may not be detected by sequencing alone
- ●Presence of a second genetic variant in another gene not tested
Compare With Similar Tests
| Test | CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test | Sanger Sequencing of CAV3 | CPK Blood Test | Multigene Myopathy Panel |
|---|---|---|---|---|
| Comparison | CAV3 Gene Creatine phosphokinase, elevated serum NGS Genetic Test |
Frequently Asked Questions
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