PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
Short Name: PIEZO2 MWS NGS Test
Also known as: PIEZO2 Gene Test for Marden-Walker Syndrome, Marden-Walker Syndrome Genetic Test, PIEZO2 Mutation Analysis
PIEZO2 Gene Marden-Walker syndrome 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PIEZO2 Gene Marden-Walker Syndrome NGS Genetic Test is to identify pathogenic mutations in the PIEZO2 gene that cause Marden-Walker syndrome. This enables accurate diagnosis, confirms clinical suspicion, identifies carriers for family planning, and guides management and genetic counseling.
- Test Code
- 1674
- 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
Sample Collection
Pre-test genetic counseling to obtain clinical history, draw a pedigree chart of family members, and discuss implications of testing. Patient should provide detailed medical history and family history.
Method: Venipuncture or FTA Card spot collection
Laboratory Analysis
Sample collected via venipuncture for blood or using FTA card for one drop blood. Minimal discomfort; procedure similar to standard blood draw.
Report Delivery
Sample labeled, processed, and sent to laboratory for NGS analysis. Ensure proper storage and transport to maintain sample integrity.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PIEZO2 Gene Marden-Walker Syndrome NGS Genetic Test is to identify pathogenic mutations in the PIEZO2 gene that cause Marden-Walker syndrome. This enables accurate diagnosis, confirms clinical suspicion, identifies carriers for family planning, and guides management and genetic counseling.
How to Prepare
- For blood sample: Use EDTA tube and store at ambient room temperature
- For FTA card: Apply one drop of blood and let it dry completely
- Label sample with patient details clearly
- Transport to lab within 24 hours if possible
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for Marden-Walker syndrome can aid in accurate diagnosis, management, and informed family planning decisions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Contaminated or unlabeled sample
- Sample degraded due to improper storage
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Marden-Walker syndrome; genetic counseling recommended for family.
Negative
No pathogenic variants detected; clinical correlation and further testing may be needed if symptoms persist.
Variant of unknown significance
Genetic variant found but clinical significance unclear; additional family studies or functional assays recommended.
Consult a doctor if you or a family member exhibit symptoms of Marden-Walker syndrome, such as joint contractures, developmental delays, or facial dysmorphism, for evaluation and possible genetic testing. Also consult for family planning if there is a known family history.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Cannot predict disease severity or onset accurately
- ⚠Results may include variants of unknown significance requiring further evaluation
Risks & Considerations
- ●Minimal physical risks from blood draw (e.g., bruising, infection)
- ●Psychological impact of results, such as anxiety or distress
- ●Potential for uncertain results requiring further testing
Interfering Factors
- ●Poor sample quality or insufficient DNA
- ●Contamination during sample collection
- ●Technical errors in sequencing
- ●Recent blood transfusions may affect DNA analysis
Frequently Asked Questions
What is Marden-Walker syndrome?
What is the PIEZO2 gene?
How is Marden-Walker syndrome diagnosed?
What is NGS genetic testing?
How accurate is the PIEZO2 gene NGS test?
What is the cost of the PIEZO2 gene test in India?
Is home sample collection available?
How long does it take to get results?
What should I do before the test?
Can this test be used for family planning?
What are the risks of genetic testing?
What if my test results are inconclusive?
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