Test Price
2,800 AED✅ Home Collection Available
PIEZO2 Gene Distal Arthrogryposis Type 3 (DA3) Genetic Test | DHA-Licensed Molecular Diagnostics
Executive Summary & Core Metrics
Exclusive UAE Patient Benefits – DNA Labs UAE
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO‑certified full‑gene Next‑Generation Sequencing for PIEZO2 coding regions.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection available daily 8 AM–11 PM.
- Clinical Guidance: Complimentary post‑test telephonic result interpretation by our Consultant Medical Genetics team.
- Insurance & Billing: Direct insurance verification and seamless billing support via WhatsApp +971 54 548 8731.
This molecular genetic test utilises full‑gene NGS to detect pathogenic variants in the PIEZO2 gene responsible for Distal Arthrogryposis Type 3 (Gordon Syndrome), providing a definitive molecular diagnosis that enables targeted clinical management, family planning, and informed genetic counselling.
Test Overview & Methodology
The PIEZO2 Gene Distal Arthrogryposis Type 3 (DA3) Genetic Test employs Next‑Generation Sequencing to comprehensively analyse all coding exons and flanking splice sites of the PIEZO2 gene. This approach identifies single‑nucleotide variants, small insertions and deletions, and copy‑number alterations associated with Gordon Syndrome. A definitive molecular diagnosis empowers clinicians to differentiate DA3 from other arthrogryposis phenotypes, tailor orthopaedic and rehabilitation interventions, and provide accurate recurrence risk counselling for families.
| Parameter | DNA Labs UAE – NGS Panel | Alternative Targeted Approach |
|---|---|---|
| Methodology | Full‑gene Next‑Generation Sequencing (Illumina platform, >30x mean depth) | Targeted Sanger sequencing of selected exons only |
| Analytical Sensitivity | >99.9% for SNVs, >98% for small indels | ~95% within amplified regions |
| Turnaround Time | 3–4 weeks from sample receipt | 4–6 weeks (frequently outsourced abroad) |
| Clinical Utility | Definitive diagnosis, carrier detection, prenatal planning | Confirmation of known familial mutation only |
Physician Insight & Safety Protocols
“A molecular diagnosis of Distal Arthrogryposis Type 3 through comprehensive PIEZO2 sequencing provides families with clarity that transcends symptom management alone. As a Consultant Medical Genetics specialist, I emphasise that every genetic result must be correlated with the full clinical phenotype, family pedigree, and physical examination findings. This test is a powerful diagnostic anchor — never a standalone label — and should always be integrated within a structured genetic counselling framework to guide surveillance, rehabilitation, and informed reproductive decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication & Treatment Advisory
⚠ Critical Clinical Advisory
Do not discontinue, alter, or initiate any prescribed medication, orthopaedic intervention, or rehabilitative therapy solely based on the results of this genetic test. All diagnostic findings must be reviewed by your supervising physician or a qualified specialist in medical genetics before any treatment decisions are made.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion – Minor Consent: Individuals under 18 years of age must provide documented parental or legal guardian consent in compliance with UAE Federal Law.
- Exclusion – Capacity: Patients unable to provide valid informed consent due to cognitive impairment, acute medical instability, or legal incapacity are excluded from testing.
- Emergency Red Flag: Acute respiratory distress, severe feeding difficulties, signs of spinal cord compression, or rapidly progressive joint contractures warrant immediate hospital evaluation. This genetic test does not replace emergency medical assessment or imaging.
- Data Confidentiality: All genetic data is handled in strict accordance with Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Specimens are anonymised and processed in our ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) accredited laboratory facility.
Patient FAQ & Clinical Guidance
1. What specific genetic alterations does the PIEZO2 NGS test detect?
This test performs comprehensive full‑gene sequencing of the PIEZO2 locus, identifying pathogenic single‑nucleotide variants, small insertions and deletions, and copy‑number changes associated with Distal Arthrogryposis Type 3 (Gordon Syndrome). The analysis provides a definitive molecular diagnosis that guides prognosis, family counselling, and long‑term management planning.
2. How is the sample collected and is the procedure suitable for children?
A DHA‑licensed phlebotomist performs a peripheral venipuncture to collect whole blood in an EDTA tube. For infants and young children, a single drop of blood is collected on a sterile FTA card via a gentle heel‑prick method. Both collection methods are quick, minimally discomforting, and can be performed during a scheduled VIP home visit between 8 AM and 11 PM.
3. When will I receive my results and how are they interpreted?
Results are delivered within 3 to 4 weeks from sample receipt through our secure online patient portal. Every report includes a detailed variant interpretation aligned with ACMG/AMP guidelines, and our Consultant Medical Genetics team provides a complimentary telephonic consultation to explain the findings, discuss inheritance patterns, and coordinate any recommended follow‑up care or family testing.
UAE Regulatory & Data Privacy Adherence
Your Data. Protected by UAE Law.
- Federal Decree‑Law No. 45 of 2021 on Personal Data Protection (PDPL): All genetic and personally identifiable information is processed under strict lawful basis requirements, including explicit consent, data minimisation, and purpose limitation. You retain the right to access, rectify, and request deletion of your data in accordance with Articles 7–14 of the PDPL.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields: Electronic health records and genetic test data are stored on encrypted, access‑controlled servers within the UAE, ensuring confidentiality, integrity, and availability of health information as mandated by Articles 5 and 6 of the Law.
- Federal Decree‑Law No. 4 of 2016 on Medical Liability: All clinical testing and patient consent procedures adhere to the standards of care defined under this Law, ensuring that every genetic test is performed with the patient’s informed consent and that results are communicated with appropriate medical oversight.
Clinical & Logistical Metadata
| Test Name | PIEZO2 Gene Distal Arthrogryposis Type 3 (DA3) Genetic Test – Full‑Gene NGS |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks from sample receipt |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or FTA Card Dried Blood Spot – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (daily 8 AM–11 PM) |
| Methodology Used | Full‑gene Next‑Generation Sequencing (Illumina platform, >30x mean depth, SNV & indel detection) |
| ICD‑10‑CM Code | Q74.3 (Arthrogryposis multiplex congenita), Q68.8 (Other specified congenital musculoskeletal deformities) |
| LOINC Code | 81313-4 (PIEZO2 gene full mutation analysis in Blood or Tissue by NGS) |
| DHA Facility License & Laboratory Address | License 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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