Test Price
2,800 AED✅ Home Collection Available
PIEZO2 Gene – Marden-Walker Syndrome Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
This molecular diagnostic test employs next-generation sequencing (NGS) to comprehensively analyze the PIEZO2 gene for pathogenic variants causing Marden-Walker syndrome (MWS). Accredited under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139), the test delivers 99.9% diagnostic sensitivity and specificity. The service includes DHA-licensed genetic counseling before and after testing, direct insurance billing verification, and a clinical report interpreted by a specialist medical geneticist.
- ✓ Clinical Validation: 99.9% accuracy in detecting single nucleotide variants, indels, and copy number alterations in PIEZO2.
- ✓ Logistics Framework: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (available daily 8 AM – 11 PM).
- ✓ Post-Test Support: Telephonic consultation with DHA-licensed medical genetics specialist to discuss results and management.
- ✓ Insurance Assistance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
Marden-Walker syndrome is a rare autosomal recessive disorder characterized by developmental delay, distinct facial features, joint contractures, and respiratory difficulties. The PIEZO2 gene encodes a mechanosensitive ion channel critical for proprioception and cellular function. Our NGS assay targets all coding exons and flanking intronic regions (±20 bp) to detect point mutations, small insertions/deletions, and copy number variants. The test is recommended for individuals with clinical suspicion of MWS, families with carrier screening needs, or confirmation of prenatal findings.
| Feature | Our PIEZO2 NGS Test | Alternative: Single-Gene Sanger Sequencing |
|---|---|---|
| Genomic Coverage | All exons ±20 bp intronic boundaries including splice sites | Limited to known mutational hotspots |
| CNV Detection | Yes – bioinformatic pipeline for exon-level copy number analysis | Not available |
| Turnaround Time | 14–21 business days | 28–42 business days |
| Regulatory Standards | DHA approved, ISO 9001:2015, UAE PDPL | Variable certification |
Physician Insight & Safety Protocols
“This comprehensive PIEZO2 gene analysis provides a definitive molecular diagnosis for Marden-Walker syndrome, yet it must be interpreted within the context of the patient’s full clinical phenotype and family history. A thorough neurological assessment and developmental evaluation remain essential for accurate management. I am personally available to discuss your child’s results and guide subsequent care decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Genetic Test Advisory & Safety Precautions
Important Clinical Note
Genetic test results do not replace current medical therapy or ongoing clinical supervision. Never discontinue prescribed treatments without consulting the treating physician. Molecular findings may refine prognosis but require integrated multidisciplinary management.
Exclusion Criteria & Emergency Red Flags
- This test is not indicated for asymptomatic individuals without a confirmed family history or clinical features suggestive of Marden-Walker syndrome.
- Should the patient experience acute respiratory distress, severe hypotonia with feeding intolerance, or sudden neurological deterioration, contact emergency services immediately (call 998 in the UAE) or proceed to the nearest emergency department.
Patient FAQ & Clinical Guidance
1. What does the PIEZO2 gene test for Marden-Walker syndrome detect?
The test utilizes next-generation sequencing to examine the complete coding region and intron-exon boundaries of the PIEZO2 gene. It identifies single nucleotide variants, small insertions and deletions, and copy number alterations that cause Marden-Walker syndrome, a rare autosomal recessive disorder.
2. How is the sample collected and when will I receive results?
A certified phlebotomist visits your home or chosen location to collect a peripheral blood sample (2–5 mL in EDTA). The sample is transported under temperature-controlled conditions to our CAP-accredited laboratory. The fully interpreted clinical report is delivered electronically within 14–21 business days.
3. Will my health insurance cover this genetic test in the UAE?
Our insurance verification team coordinates directly with your provider to secure preauthorization. Most comprehensive UAE health insurance policies cover DHA-accredited genetic testing when deemed medically necessary. You can initiate the process via WhatsApp at +971 54 548 8731.
4. Is genetic counseling provided with this test?
Yes. Pre-test genetic counseling is mandatory to discuss the implications, risks, and benefits of testing. Post-test counseling is provided by a DHA-licensed consultant medical geneticist to explain the results and recommend next steps, including family screening and management options.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Framework
This testing service strictly complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – governing the collection, processing, and storage of personal genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – ensuring digital health data security and integrity.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – guiding patient consent, clinical safety, and professional accountability.
All results are encrypted and transmitted through secure channels. Genetic counseling and informed consent are documented prior to sample collection. The laboratory operates under DHA Facility License 1143 (Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE).
Clinical & Logistical Metadata
| Test Name | PIEZO2 Gene Sequencing – Marden-Walker Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 14–21 business days (3–4 weeks) |
| Sample Type / Matrix | Peripheral whole blood (EDTA tube), or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with CNV analysis |
| ICD-10-CM Code | Q87.0 (Congenital malformation syndromes predominantly affecting facial appearance) |
| LOINC Code | 21636-6 (Gene mutations tested in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians