ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test
Short Name: ACVR1 FOP NGS Test
Also known as: Stone Man Syndrome, Myositis Ossificans Progressiva, FOP
ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) on Blood samples. Results in 3 to 4 Weeks. 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
To diagnose Fibrodysplasia Ossificans Progressiva by detecting mutations in the ACVR1 gene using NGS technology, enabling early intervention and management.
- Test Code
- 4936
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS (Next-Generation Sequencing)
Sample Collection
No special preparation required. Inform the healthcare provider about any medications or recent transfusions. Genetic counseling session recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm using standard venipuncture technique.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Resume normal activities unless advised otherwise.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose Fibrodysplasia Ossificans Progressiva by detecting mutations in the ACVR1 gene using NGS technology, enabling early intervention and management.
How to Prepare
- Ensure proper patient identification and sample labeling
- Transport sample at ambient room temperature
- Avoid hemolysis during collection
- Follow aseptic techniques
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of FOP is crucial for management and preventing complications such as joint immobility and respiratory issues."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improper labeling or container
- Sample received after stability period
Understanding Your Results
Positive
Pathogenic variant detected in ACVR1 gene, consistent with FOP diagnosis. Clinical correlation and genetic counseling recommended.
Negative
No pathogenic variants detected. FOP is unlikely, but clinical evaluation may be needed if symptoms persist.
Variant of Uncertain Significance
A genetic variant was found but its clinical significance is unknown. Further testing or family studies may be required.
If symptoms of FOP are present, such as progressive stiffness, swelling, or bone growth in soft tissues, or if genetic test results are positive or uncertain.
Limitations
- ⚠May not detect all possible mutations in the ACVR1 gene
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not assess for other genetic conditions unless specified
- ⚠Variant of uncertain significance may require further testing
Risks & Considerations
- ●Minor bruising or pain at puncture site
- ●Rare risk of infection
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Previous blood transfusions within 4 weeks
- ●Improper sample storage or transport
Compare With Similar Tests
| Test | ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test | Sanger Sequencing | Clinical and Radiographic Evaluation | Biochemical Markers |
|---|---|---|---|---|
| Comparison | ACVR1 Gene Fibrodysplasia ossificans progressiva NGS Genetic Test | NGS is more comprehensive for detecting multiple mutations in the ACVR1 gene, while Sanger is targeted but less efficient for large genes. | Genetic testing provides definitive diagnosis, whereas imaging may show ossification but cannot confirm genetic cause. | No specific biochemical markers for FOP; genetic testing is the gold standard for diagnosis. |
Frequently Asked Questions
What is Fibrodysplasia Ossificans Progressiva (FOP)?
What causes FOP?
How is FOP diagnosed?
What are the symptoms of FOP?
At what age do FOP symptoms appear?
What is the ACVR1 Gene NGS Genetic Test?
How much does the ACVR1 Gene FOP NGS Test cost in India?
Is fasting required for this genetic test?
How long does it take to get results?
Is home sample collection available for this test?
What should I do if my test results are positive?
Can FOP be cured or treated?
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₹20,000Reference 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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