Test Price
2,800 AEDโ Home Collection Available
WDR19 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 5) Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Why Choose Our WDR19 Gene Sequencing Test
- 99.9% Diagnostic Sensitivity โ ISO 15189-accredited NGS processing ensures near-perfect variant detection across all coding exons and splice sites of the WDR19 gene.
- Premium Logistics โ ISO-certified cold-chain home collection (8 AM โ 11 PM) with VIP mobile phlebotomy for peripheral blood or buccal swab samples.
- Clinical Guidance โ Complimentary telephonic post-test clinical interpretation with a Consultant in Medical Genetics.
- Direct Billing Verification โ WhatsApp +971 54 548 8731 for instant insurance pre-authorization.
Test Overview & Methodology
The WDR19 gene sequencing test is a definitive genetic diagnostic tool for short-rib thoracic dysplasia type 5 (SRTD5) โ a rare inherited skeletal ciliopathy characterized by a narrow thorax, short ribs, and often polydactyly. Using next-generation sequencing (NGS), our laboratory achieves >99.9% analytical sensitivity and specificity for all coding exons and splice sites of the WDR19 gene. This targeted approach ensures high-depth coverage necessary for detecting mosaic variants and validating copy number changes.
| Feature | Our Test (WDR19 NGS Sequencing) | Closest Alternative (Sanger Sequencing / WES) |
|---|---|---|
| Analytical Sensitivity | >99.9% (complete coding region coverage) | ~95% (targeted exons only) / 90-95% (whole exome) |
| Methodology | Next-Generation Sequencing (NGS) with MLPA backup | Sanger Sequencing / Exome Sequencing |
| Turnaround Time | 3 โ 4 Weeks | 6 โ 10 Weeks (exome) / 4 โ 6 Weeks (Sanger) |
| Clinical Interpretation | Board-certified clinical geneticist report | Often bioinformatics-only or without phenotype-directed analysis |
Physician Insight & Safety Protocols
โA genetic diagnosis of short-rib thoracic dysplasia type 5 provides families with a clear understanding of the conditionโs natural history and recurrence risk. However, a negative WDR19 sequencing result must never be used to dismiss clinical suspicion; I always correlate with detailed imaging and may recommend broader genomic analysis. Your childโs multidisciplinary care โ including respiratory, orthopaedic, and genetic counselling โ should continue based on clinical need, not solely on this test.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
Advisory โ Medication and Therapy Continuation
Do not discontinue any prescribed medication or supportive therapy (e.g., respiratory support, vitamin supplements) without consulting your managing physician. Genetic test results do not alter acute management decisions.
Exclusion Criteria & Emergency Red Flags
- Not a screening test: Only for symptomatic patients with clinical features of skeletal ciliopathy; not for asymptomatic general population testing.
- Forensic/Identity Use Prohibited: This test is for medical diagnostic purposes under a licensed physicianโs request.
- ER Red Flags: If your child develops severe respiratory distress, cyanosis (blue lips/skin), or oxygen saturation persistently below 90%, do not wait for test results โ seek immediate emergency medical care.
Patient FAQ & Clinical Guidance
1. What is the WDR19 gene test, and why is it recommended for my child?
The WDR19 gene sequencing definitively diagnoses short-rib thoracic dysplasia type 5 using next-generation sequencing with 99.9% sensitivity. It is recommended for children with clinical signs like a narrow chest, short ribs, and extra fingers to confirm the genetic cause and plan medical management.
2. How is the sample collected, and will it cause pain to my child?
Sample collection involves a simple blood draw or a painless cheek swab, requiring no special preparation for the child. Our paediatric phlebotomists use age-appropriate techniques and can collect a few drops on an FTA card for maximum comfort. VIP Mobile Phlebotomy is available daily from 8 AM to 11 PM.
3. How long do results take, and how will I receive them?
Results are delivered securely within 3 to 4 weeks via our encrypted patient portal, with a telephonic consultation included. You will receive a comprehensive clinical report that explains the variant, its significance, and actionable recommendations.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Legal Compliance
- Personal Data Protection: This service complies with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL), ensuring all genetic data is processed with explicit patient consent, purpose limitation, and stringent security controls.
- Health Data Governance: Adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, guaranteeing the confidentiality and integrity of electronic health records and genetic test results.
- Medical Liability & Patient Safety: All clinical testing and patient consent procedures follow Federal Decree-Law No. 4 of 2016 on Medical Liability, upholding the highest standards of medical accountability and patient safety.
Clinical & Logistical Metadata
| Test Name | WDR19 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 5) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 โ 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Buccal Swab. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) with MLPA backup for copy number variant detection. |
| ICD-10-CM Code | Q77.2 (Short rib syndrome) |
| LOINC Code | 95308-5 (WDR19 gene mutation analysis) |
| DHA Facility License & Address | DHA Facility License Number: 1143. Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE. |
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