PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test
Short Name: PIEZO2 MWS NGS
Also known as: MWS Genetic Test, PIEZO2 Gene Sequencing, Marden-Walker Syndrome NGS Panel
PIEZO2 Gene Marden-Walker syndrome 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 sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of Marden-Walker syndrome by identifying pathogenic mutations in the PIEZO2 gene. It also aids in carrier testing for family members, prenatal diagnosis in at-risk pregnancies, and genetic counseling. NGS technology ensures high accuracy and comprehensive coverage of the gene.
- Test Code
- 5830
- CPT Code
- 81407
- ICD Code
- Q87.8
- 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 sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation required. A genetic counseling session is recommended before the test to draw a pedigree chart and discuss implications.
Method: Venipuncture or FTA card spot
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using sterile technique. For FTA card, a drop of blood is placed on the card and allowed to dry.
Report Delivery
No restrictions. The sample is transported to the laboratory at ambient temperature.
Timeline: Reports are typically delivered within 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of Marden-Walker syndrome by identifying pathogenic mutations in the PIEZO2 gene. It also aids in carrier testing for family members, prenatal diagnosis in at-risk pregnancies, and genetic counseling. NGS technology ensures high accuracy and comprehensive coverage of the gene.
How to Prepare
- Ensure patient identity is verified
- Use EDTA vacutainer for blood collection
- For FTA card, apply one drop of blood to each circle
- Label the sample with patient name and ID
- Store at room temperature until shipment
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Marden-Walker syndrome is crucial for accurate diagnosis and family planning. NGS provides comprehensive analysis of the PIEZO2 gene."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Incorrect labeling
- Sample received after prolonged transit time (>72 hours) without proper storage
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Marden-Walker syndrome. Genetic counseling recommended.
Negative for pathogenic variant
No mutation found in PIEZO2 gene. Other genetic causes may be considered.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unclear. Further testing of family members may be needed.
Consult a geneticist or pediatrician if you or your child exhibit symptoms suggestive of Marden-Walker syndrome, such as joint contractures, facial dysmorphism, or developmental delay. Early referral for genetic testing is advised.
Limitations
- ⚠NGS may not detect large deletions/duplications or deep intronic variants
- ⚠Variants in regulatory regions may not be covered
- ⚠Results should be interpreted in the context of clinical findings
- ⚠Negative result does not rule out other genetic causes of similar phenotype
Risks & Considerations
- ●Minimal risk of bruising at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for variants of uncertain significance causing anxiety
Interfering Factors
- ●Poor quality DNA sample (degraded or contaminated)
- ●Insufficient sample quantity
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare variants of uncertain significance may require further analysis
Compare With Similar Tests
| Test | PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test | Whole Exome Sequencing | Targeted PIEZO2 Sanger Sequencing | Chromosomal Microarray |
|---|---|---|---|---|
| Comparison | PIEZO2 Gene Marden-Walker syndrome NGS Genetic Test |
Frequently Asked Questions
What is Marden-Walker syndrome?
How is the PIEZO2 gene test performed?
What is the cost of the PIEZO2 gene test in India?
Is fasting required before the test?
How long does it take to get the results?
What sample types are accepted?
Will I receive raw data files?
Can this test be done during pregnancy?
What does a positive result mean?
What if the result is negative?
Is home sample collection available?
How do I book this test?
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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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