Test Price
2,800 AED✅ Home Collection Available
WNT7A Gene Sequencing (NGS) – Schinzel Phocomelia Syndrome Diagnosis in Dubai | 2800 AED
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2022 accredited Next-Generation Sequencing (Illumina NovaSeq X).
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
Clinical Guidance: Post-test telephonic interpretation by DHA-licensed Consultant Medical Genetics.
Insurance Made Simple: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of WNT7A to detect point mutations, splice-site variants, and copy-number changes that cause Schinzel phocomelia syndrome – a rare limb-deficiency disorder characterized by absence of the ulna and fibula with severe limb shortening. The test provides definitive molecular confirmation to guide surgical planning and family recurrence risk assessment.
| Feature | DNA Labs UAE | Closest Alternative |
|---|---|---|
| Methodology | NGS (Illumina NovaSeq X) + MLPA confirmation | Sanger sequencing of selected exons |
| Coverage | 100% coding region & splice boundaries, CNV detection | Limited to hotspots |
| Analytical Sensitivity | 99.9% for SNVs, 95% for large CNVs | ~90% for SNVs |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Price | 2800 AED | 3500–4000 AED |
| Accreditation | ISO 15189:2022, DHA-Licensed Facility 1143 | Generic laboratory certification |
Physician Insight & Safety Protocols
Insight from Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403: "A positive WNT7A variant confirms the clinical diagnosis of Schinzel phocomelia syndrome. However, this result must always be interpreted alongside detailed limb imaging and a comprehensive family history. We strongly recommend pre- and post-test genetic counselling to integrate the molecular findings into your child’s multidisciplinary care plan. Surgical and orthopaedic decisions should never be based solely on this genetic report."
Important Advisory – Medication and Clinical Context
Clinical Caution: Do not alter or discontinue any prescribed medications without direct guidance from the treating paediatrician or specialist. Changes in medication could affect the child’s stability and interfere with upcoming interventions or therapy schedules.
Exclusion Criteria & Emergency Red Flags
Strict Exclusion Conditions
- Exclusion: Recent (<3 months) allogeneic bone marrow or stem cell transplantation – may confound germline DNA analysis from blood.
- Exclusion: Active severe coagulopathy (INR>3.0, platelet count<40×10⁹/L).
Emergency Red Flags
- ER Red Flag: Progressive swelling, severe pain, or purulent discharge at the venepuncture site – seek immediate medical attention.
- ER Red Flag: Sudden cyanosis or coldness of the limb – requires urgent evaluation regardless of test association.
Patient FAQ & Clinical Guidance
1. What does a WNT7A NGS test detect, and why is it important for limb deficiency?
This NGS test identifies pathogenic variants across the entire WNT7A gene linked to Schinzel phocomelia syndrome, providing a definitive molecular diagnosis. This result guides surgical planning, predicts recurrence risk in future pregnancies, and helps tailor orthopaedic and rehabilitative strategies for the child.
2. How is home blood collection performed for this paediatric test?
A DHA-licensed paediatric phlebotomist visits your residence between 8 AM and 11 PM with ISO-certified cold-chain transport kits. A minimal blood volume (a few drops on an FTA card or a small EDTA sample) is collected, ensuring minimal discomfort for the child.
3. Will my insurance cover the 2800 AED WNT7A genetic test in Dubai?
Yes, DNA Labs UAE offers direct insurance verification prior to your appointment. Contact our billing team via WhatsApp (+971 54 548 8731) to confirm coverage and any co-pay details. This ensures transparency and avoids unexpected out-of-pocket expenses.
UAE Regulatory & Data Privacy Adherence
Compliance Framework
This genetic testing service fully complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure handling of genetic and medical data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – setting standards for clinical safety and patient consent.
DNA Labs UAE is a DHA-licensed facility (License No. 1143) with ISO 15189:2022 accreditation (certificate INT/EGQ/2509DA/3139). All clinical opinions are provided by independently licensed healthcare professionals.
Clinical & Logistical Metadata
| Test Name | WNT7A Gene Sequencing (NGS) – Schinzel Phocomelia Syndrome |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card |
| Methodology Used | Next-Generation Sequencing (Illumina NovaSeq X) with MLPA confirmatory analysis |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 81231-0 |
| DHA Facility License & Laboratory Address | Facility License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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