PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test
Also known as: Distal Arthrogryposis Type 5, PIEZO2-related arthrogryposis, DA5
PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify mutations in the PIEZO2 gene to confirm a diagnosis of Arthrogryposis, distal, type 5, guide treatment decisions, and provide genetic counseling for affected individuals and families.
- Test Code
- 2361
- 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 (Next-Generation Sequencing)
Sample Collection
Genetic counseling is recommended prior to testing to discuss implications and obtain informed consent.
Method: Venipuncture or FTA Card
Laboratory Analysis
Standard blood draw procedure using aseptic technique; for FTA card, collect one drop of blood as per instructions.
Report Delivery
Apply pressure to the puncture site to prevent bleeding; store samples as directed before transport.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify mutations in the PIEZO2 gene to confirm a diagnosis of Arthrogryposis, distal, type 5, guide treatment decisions, and provide genetic counseling for affected individuals and families.
How to Prepare
- Use sterile equipment for blood collection
- Label samples with patient details and test information
- Transport samples at ambient temperature unless specified
- For FTA cards, ensure blood is fully dried before packaging
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis is crucial for managing symptoms and providing personalized care, especially for family planning and early intervention in arthrogryposis."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of Arthrogryposis, distal, type 5; refer for genetic counseling and management.
Negative (No pathogenic variant detected)
Suggests absence of PIEZO2-related mutations; consider other genetic or environmental causes.
Variant of Uncertain Significance (VUS)
Requires further evaluation and clinical correlation; genetic counseling recommended.
Consult a doctor if you or your child exhibits symptoms of joint contractures, muscle weakness, or if there is a family history of arthrogryposis. Early consultation facilitates timely diagnosis and management.
Limitations
- ⚠May not detect all types of mutations, such as large deletions or deep intronic variants
- ⚠Results require clinical correlation for accurate diagnosis
- ⚠Test does not cover other genes associated with arthrogryposis unless specified
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Minimal risk of infection with proper aseptic technique
Interfering Factors
- ●DNA degradation due to improper sample handling
- ●Sample contamination during collection or transport
- ●Hemolysis in blood samples affecting DNA quality
Compare With Similar Tests
| Test | PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test | Comprehensive Arthrogryposis Panel | Whole Exome Sequencing | Chromosomal Microarray Analysis | Sanger Sequencing for PIEZO2 |
|---|---|---|---|---|---|
| Comparison | PIEZO2 Gene Arthrogryposis, distal, type 5 NGS Genetic Test |
Frequently Asked Questions
What is Arthrogryposis, distal, type 5?
How is the PIEZO2 gene test performed?
What does a positive result mean?
How long does it take to get results?
Is the test covered by insurance in India?
Can the test be done at home?
What are the main symptoms of this condition?
Is there a cure for Arthrogryposis, distal, type 5?
How accurate is the NGS genetic test?
Can this test detect other genetic disorders?
What should I do if I have a family history of arthrogryposis?
How can I prepare for the test?
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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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