Test Price
2,800 AED✅ Home Collection Available
WDR35 Gene Short-Rib Thoracic Dysplasia Type 7 With or Without Polydactyly Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity: ISO 9001:2015 Certified processing (Cert: INT/EGQ/2509DA/3139) with NGS depth greater than 100X.
- Premium Logistics: Hospital-Grade Home Collection available daily from 8 AM to 11 PM via ISO Certified Cold-Chain, VIP Mobile Phlebotomy included.
- Post-Test Clinical Guidance: Telephonic pre- and post-test genetic counselling by DHA-licensed specialists for comprehensive result interpretation.
- Direct Billing Verification: Contact +971 54 548 8731 via WhatsApp for an instant insurance eligibility check.
Test Overview & Methodology
This next-generation sequencing panel targets the entire coding region of WDR35 to diagnose autosomal recessive short-rib thoracic dysplasia type 7 (SRTD7) with or without polydactyly. The condition is characterised by a narrow chest, short ribs, and variable limb anomalies; early molecular confirmation enables timely multidisciplinary care and informed family counselling.
| Feature | Our Test (NGS) | Closest Alternative (Single-gene Sanger) |
|---|---|---|
| Coverage | All coding exons and splice sites plus minus 20 base pairs | Exon-by-exon limited |
| Turnaround | 3-4 Weeks | 6-8 Weeks |
| Variant Detection | SNVs, indels, CNVs with high resolution | SNVs only, CNVs require MLPA add-on |
| Bioinformatics | Dual pipeline, ACMG variant classification | Manual inspection |
| Price | 2,800 AED | Approximately 3,500 AED |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403)
A positive WDR35 NGS finding provides definitive molecular confirmation of short-rib thoracic dysplasia type 7, enabling accurate recurrence risk counselling and informed prenatal planning. Phenotype-genotype correlation remains essential, as not all pathogenic variants in WDR35 produce the complete skeletal spectrum. A negative result does not rule out other ciliopathy genes; I strongly recommend pre-test counselling for informed consent and post-test multidisciplinary evaluation including skeletal survey, renal ultrasound, and pulmonary assessment.
Safety Advisory
Important Safety Notice
This genetic test is intended for diagnostic confirmation and clinical management guidance. Do not alter or discontinue any prescribed therapies, ventilatory support, or nutritional interventions based solely on test results without consulting your managing physician.
Exclusion Criteria & Red Flags
Exclusion Criteria
- Collection is performed only for patients who have completed a pre-test genetic counselling session and provided written informed consent, or parental consent for minors, in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Specimen viability requires immediate cold-chain transport; home collection is not performed if cooling chain integrity cannot be guaranteed.
- Emergency red flags: If the child develops severe respiratory distress, chest deformity progression, or feeding difficulties before results are available, visit the nearest paediatric emergency department immediately. This test is not a substitute for acute medical care.
Patient FAQ & Clinical Guidance
1. How accurate is this NGS test for WDR35-related short-rib thoracic dysplasia?
With analytical sensitivity exceeding 99.9% for single nucleotide variants and greater than 95% for copy number changes, this test provides near-definitive molecular confirmation when paired with appropriate clinical indication. Our dual-bioinformatic pipeline and ACMG variant interpretation guidelines minimise false positives and negatives. Final accuracy depends on complete penetrance data and correct phenotype selection; genetic counselling refines pre-test probability and ensures appropriate post-test action.
2. Can a negative NGS result completely rule out short-rib thoracic dysplasia in my child?
A negative WDR35 NGS result does not exclude the presence of other ciliopathies or non-coding variants that current technology cannot fully capture; continued clinical surveillance remains essential. Approximately 30% of short-rib dysplasia cases are caused by mutations in genes other than WDR35, such as IFT80 or DYNC2H1. If clinical suspicion is high, consider a broader skeletal dysplasia panel or whole-exome sequencing. Always discuss residual risk with your clinical geneticist.
3. What samples are accepted for this NGS test and do I need to stop any medications?
You may provide a whole blood sample of 3-5 mL in EDTA, extracted DNA, or a dried blood spot on an FTA card. No fasting or medication washout is required, because NGS analyses constitutional DNA which is unaffected by short-term drug exposures. For neonates, a heel-prick onto an FTA card is the preferred microcollection method. Our home collection team ensures proper sample stability with temperature-controlled cold-chain transport.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient genetic data processing, storage, and sharing. All health information handling complies with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields. Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Genetic reports are issued with encrypted digital signatures and are accessible only through authenticated portals.
Clinical & Logistical Metadata
| Test Name | WDR35 Gene Sequencing (Short-Rib Thoracic Dysplasia Type 7 with or without Polydactyly) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next-Generation Sequencing (NGS) — Full Coding Region including splice sites |
| ICD-10-CM Code | Q77.2 |
| LOINC Code | 21665-5 |
| DHA Facility License & Laboratory Address | License No. 1143 - Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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