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PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test

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PIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic Test

Short Name: PIEZO2 Arthrogryposis Test

Also known as: DA3, Distal Arthrogryposis Type 3, PIEZO2-related disorders

PIEZO2 Gene Arthrogryposis, distal, type 3 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 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the PIEZO2 Gene NGS Genetic Test is to diagnose distal arthrogryposis type 3 by detecting mutations in the PIEZO2 gene, confirm the clinical diagnosis, differentiate from other genetic disorders, guide personalized management, and facilitate genetic counseling for affected families.

Test Code
2363
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
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended prior to testing to discuss implications, benefits, and potential outcomes. Clinical history and family pedigree should be documented.

Method: Venipuncture or finger-prick

Step 2

Laboratory Analysis

A standard blood draw using venipuncture or a finger-prick for FTA card collection will be performed by a trained phlebotomist.

Step 3

Report Delivery

The sample will be labeled securely and transported to the laboratory under controlled conditions for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session, provide detailed clinical and family history, and ensure informed consent is obtained.
2
During the Test:Blood sample collection via venipuncture or finger-prick; procedure takes approximately 10-15 minutes.
3
After the Test:Results are delivered in 3-4 weeks; follow-up consultation recommended for interpretation and next steps.

About This Test

Who Should Get This Test

The purpose of the PIEZO2 Gene NGS Genetic Test is to diagnose distal arthrogryposis type 3 by detecting mutations in the PIEZO2 gene, confirm the clinical diagnosis, differentiate from other genetic disorders, guide personalized management, and facilitate genetic counseling for affected families.

How to Prepare

  • Ensure proper identification and labeling of the sample
  • Use sterile collection tubes or FTA cards as provided
  • Transport sample at ambient temperature unless specified otherwise
  • Avoid hemolysis by gentle handling of blood samples

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic testing for PIEZO2 mutations can inform diagnosis, management, and genetic counseling for families affected by arthrogryposis."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries based on collection method
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger-prick

Sample Stability

Blood in EDTA tube: stable for 24-48 hours at 2-8°C
FTA card sample: stable at room temperature for several days if stored properly
Extracted DNA: stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume or improper container
  • Samples with mismatched labeling or missing documentation
  • Contaminated or degraded samples

Understanding Your Results

Results from the PIEZO2 Gene NGS Genetic Test should be interpreted by a clinical geneticist or genetic counselor. Positive results indicate a pathogenic mutation in the PIEZO2 gene, confirming distal arthrogryposis type 3. Negative results suggest no detectable mutations, but clinical correlation is advised. Variants of unknown significance require further evaluation.
📊

Pathogenic variant detected

Confirms diagnosis of distal arthrogryposis type 3; genetic counseling and management planning recommended.

📊

No pathogenic variant detected

Reduces likelihood of PIEZO2-related arthrogryposis; consider other genetic or non-genetic causes.

📊

Variant of unknown significance (VUS)

Variant requires further research or family studies; not diagnostic for disease.

📊

Benign or likely benign variant

Variant is not associated with disease; no clinical action typically needed.

⚠️ When to Consult a Doctor:

Consult a healthcare provider or genetic specialist if symptoms of arthrogryposis are present, for family planning purposes if there is a known genetic history, or to discuss test results and management options.

Limitations

  • ⚠May not detect all possible mutations or variants in the PIEZO2 gene
  • ⚠Does not predict disease severity or progression
  • ⚠Results require interpretation by a qualified geneticist
  • ⚠Variant of unknown significance (VUS) may be identified, requiring further analysis
  • ⚠Test does not screen for other genetic disorders unless specified

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or discomfort
  • ●Psychological impact of genetic results, requiring counseling support
  • ●Privacy and confidentiality concerns with genetic data

Interfering Factors

  • ●Sample contamination or degradation
  • ●Low-quality DNA extraction
  • ●Presence of hemolysis in blood samples
  • ●Insufficient sample volume

Compare With Similar Tests

TestPIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic TestWhole Exome Sequencing (WES)Chromosomal Microarray (CMA)PIEZO1 Gene TestArthrogryposis Gene Panel
ComparisonPIEZO2 Gene Arthrogryposis, distal, type 3 NGS Genetic TestWES analyzes all genes, while this test targets only PIEZO2; WES may detect additional variants but is more costly and complex.CMA detects large chromosomal abnormalities, not point mutations; useful for broader genetic syndromes but not specific for PIEZO2.PIEZO1 is related to different disorders; this test is specific for PIEZO2 and distal arthrogryposis type 3.A panel tests multiple genes associated with arthrogryposis; this test is focused on PIEZO2, offering targeted analysis.

Frequently Asked Questions

What is the PIEZO2 Gene Arthrogryposis Test?
It is an NGS genetic test that analyzes the PIEZO2 gene to diagnose distal arthrogryposis type 3, a rare disorder causing joint stiffness and muscle abnormalities.
Who should consider getting this test?
Individuals showing symptoms of distal arthrogryposis type 3, such as stiff joints or contractures, or those with a family history of the condition, should consider testing.
How is the test performed?
The test uses Next-Generation Sequencing (NGS) on a blood or DNA sample to detect mutations in the PIEZO2 gene, collected via venipuncture or finger-prick.
What are the symptoms of distal arthrogryposis type 3?
Symptoms include stiff fingers and toes, permanent muscle contractions, muscle weakness, low muscle tone, scoliosis, and clubfoot.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the cost of the PIEZO2 Gene Test?
The test costs INR 20,000, which may include home sample collection and genetic counseling.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across numerous cities in India.
What do the test results mean?
A positive result confirms a PIEZO2 mutation indicating distal arthrogryposis type 3. Negative results reduce likelihood, but clinical consultation is advised for interpretation.
Can this test detect all mutations in the PIEZO2 gene?
While NGS is highly sensitive, it may not detect every possible variant, such as large deletions or deep intronic mutations.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to discuss implications, family planning, and to understand results comprehensively.
What are the risks associated with this genetic test?
Risks are minimal, including slight discomfort from blood draw and potential psychological impact, which counseling can mitigate.
How can I book the PIEZO2 Gene Test?
You can book online through DNA Labs India's website or contact their customer service for assistance and home sample collection.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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