Test Price
2,800 AED✅ Home Collection Available
WDR60 Gene Short‑Rib Thoracic Dysplasia Type 8 with or without Polydactyly Genetic Test in UAE | 2,800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 9001:2015 accredited laboratory processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM (entire UAE).
- Clinical Guidance: Telephonic post‑test clinical guidance by a consultant medical geneticist to support result interpretation.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next‑Generation Sequencing (NGS) test analyses the entire coding region of the WDR60 gene to detect pathogenic variants responsible for Short‑Rib Thoracic Dysplasia type 8 (SRTD8). SRTD8 is a rare autosomal recessive skeletal ciliopathy characterised by a narrow thorax, short ribs, respiratory insufficiency, and variable polydactyly. The assay includes MLPA backup for detection of large deletions and duplications. All variants are interpreted according to ACMG/AMP guidelines and confirmed by Sanger sequencing when necessary.
| Feature | Our Test (NGS + MLPA) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision / Detection Rate | 99.9% sensitivity for all coding and structural variants | ~95% for predefined hotspot regions only |
| Methodology | Next‑Generation Sequencing (NGS) with MLPA backup | Targeted Sanger sequencing (single‑gene, no CNV detection) |
| Turnaround Time | 3–4 Weeks | 5–6 Weeks |
| Sample Types / Matrix | Whole Blood, Extracted DNA, Dried Blood Spot (FTA Card) | Whole Blood only |
| Price | 2,800 AED | ~3,500 AED |
Physician Insight & Safety Protocols
“A molecular diagnosis of Short‑Rib Thoracic Dysplasia type 8 provides clarity for families and enables proactive respiratory management. However, this genetic result must be integrated with clinical findings, chest imaging, and pulmonary function tests to guide multidisciplinary care. I always emphasise that genetic testing is a complement to, not a substitute for, acute medical assessment.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication & Emergency Protocol
⚠️ Medication & Respiratory Support Advisory
Do not discontinue any prescribed respiratory support, bronchodilator, or other medication without consulting your treating physician. Genetic results do not replace emergency care.
Exclusion Criteria & Red Flags
- Exclusion Criteria: Individuals unable to provide informed consent (or whose legal guardian cannot), active systemic infection contraindicating blood draw, or known interfering substances within 48 hours.
- Emergency Red Flags: If the child develops severe tachypnoea, cyanosis, chest retractions, or oxygen saturation <90%, proceed immediately to the nearest emergency department – do not defer for genetic testing.
- Pre‑Test Requirement: A genetic counselling session to draw a three‑generation pedigree and document family history of skeletal dysplasias or neonatal deaths is mandatory before sample collection.
Patient FAQ & Clinical Guidance
1. What does the WDR60 genetic test detect?
The WDR60 genetic test uses Next‑Generation Sequencing to detect pathogenic variants in the WDR60 gene. These variants cause Short‑Rib Thoracic Dysplasia type 8 (SRTD8), a rare skeletal disorder presenting with a narrow thorax, short ribs, respiratory distress, and sometimes extra digits (polydactyly). A definitive molecular diagnosis helps clinicians plan respiratory support, anticipate complications, and provide accurate recurrence risk counselling.
2. Who should consider this test?
This test is recommended for newborns, infants, and children with clinical features suggestive of a short‑rib thoracic dysplasia, such as a narrow chest, short ribs, respiratory insufficiency, and/or polydactyly. It is also indicated for families with a history of SRTD8 or unexplained neonatal deaths due to skeletal dysplasia. Prenatal testing is available after prior genetic confirmation in the family.
3. How is the sample collected?
Sample collection is performed via VIP Mobile Phlebotomy at your home or preferred location. A certified paediatric phlebotomist collects 2–5 mL of whole blood into an EDTA tube, or a finger‑prick dried blood spot on an FTA card using sterile technique. All samples are transported under temperature‑controlled cold chain to the DNA Labs UAE facility in Dubai Healthcare City.
UAE Regulatory & Data Privacy Adherence
Your genetic data is protected under UAE federal law. DNA Labs UAE strictly complies 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. All genetic testing is performed following Federal Decree‑Law No. 4 of 2016 on Medical Liability, ensuring informed consent, confidentiality, and the right to access and delete your data. The laboratory holds DHA Facility License No. 1143 and is audited regularly to maintain the highest standards of data security and clinical accuracy.
Clinical & Logistical Metadata
| Test Name | WDR60 Gene Sequencing (Short‑Rib Thoracic Dysplasia Type 8) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, Dried Blood Spot (FTA Card) |
| Methodology Used | Next‑Generation Sequencing (NGS) with MLPA backup; Sanger confirmation as needed |
| ICD‑10‑CM Code | Q77.2 (Short‑rib thoracic dysplasia) |
| LOINC Code | 59409-2 (WDR60 gene mutation analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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