Test Price
2,800 AED✅ Home Collection Available
EDNRB Gene Waardenburg Syndrome / Hirschsprung Disease Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing (ISO 9001:2015 Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced NGS test examines the EDNRB gene for pathogenic variants linked to Waardenburg syndrome (sensorineural hearing loss, pigmentary anomalies) and Hirschsprung disease (congenital megacolon), enabling definitive molecular diagnosis and precise genetic counselling. The assay achieves 99.9% analytical sensitivity and specificity across the entire coding region, splice sites, and conserved regulatory elements.
| Feature | Our Test (EDNRB NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | 99.9% sensitivity / analytical specificity | ~95% for single targeted variants |
| Methodology | Next Generation Sequencing (NGS) – simultaneous analysis of entire coding region and splice sites | Sanger sequencing – one segment at a time |
| Speed (TAT) | 3–4 weeks | 6–8 weeks |
| Sample Acceptance | Blood, Extracted DNA, One drop blood on FTA Card | Blood or DNA only |
Relevant Clinical Specialists: Neurologist (diagnosis of neural crest‑derived features), Medical & PhD Researchers/Clinical Geneticists (genotypic–phenotypic correlation), Oncologists (surveillance in rare tumour associations).
Physician Insight & Safety Protocols
“EDNRB-related disorders represent a classic neurocristopathy spectrum where a single gene defect can manifest across multiple organ systems. This NGS assay achieves the analytical depth required to detect missense, nonsense, splice-site, and small indel variants with high confidence. However, variant interpretation must always be contextualised within the patient’s full clinical phenotype, family pedigree, and segregation data. The result is a powerful diagnostic anchor — not a standalone verdict.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Medication Safety Advisory
Do not discontinue, alter, or adjust any prescribed medication or therapeutic regimen based solely on genetic test results without explicit consultation with your treating physician and genetic counsellor.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Patient has not completed a formal pre-test genetic counselling session; active febrile illness or systemic infection at the planned blood draw site; uncorrected severe coagulopathy.
- Emergency Red Flags (seek immediate emergency care): In neonates/infants with suspected Hirschsprung disease — rapidly progressive abdominal distension, bilious vomiting, or failure to pass meconium within 48 hours of birth. In Waardenburg syndrome — sudden acute hearing deterioration, new neurological deficits, or signs of intestinal obstruction.
Patient FAQ & Clinical Guidance
1. What is the EDNRB gene test and why is it performed?
Key answer: The EDNRB genetic test identifies DNA mutations responsible for Waardenburg syndrome and Hirschsprung disease, enabling precise diagnosis and informed family planning. Waardenburg syndrome often presents with hearing loss and distinctive facial features, while Hirschsprung disease causes severe constipation in infants. Identifying the specific mutation helps tailor surveillance and treatment.
2. How is the sample collected, and is home collection available in the UAE?
Key answer: Sample collection uses a simple blood draw or finger‑prick FTA card, and VIP mobile phlebotomy is available across the UAE. Our ISO‑certified cold‑chain logistics team visits your home from 8 AM to 11 PM; the sample is transported under controlled conditions to our central lab for NGS analysis.
3. When will results be ready and who explains them?
Key answer: Results are delivered within 3–4 weeks, followed by a telephonic consultation with a clinical specialist for interpretation. Our post‑guidance includes a session with a genetic counsellor or neurologist who will explain variant significance and recommended follow‑up steps, all in compliance with UAE PDPL and DHA standards.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance 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 data is encrypted, access‑controlled, and processed exclusively within DHA‑licensed facilities. Clinical safety and patient consent follow the standards set by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your results are confidential and shared only with the ordering physician and the patient through secured channels.
Clinical & Logistical Metadata
| Test Name | EDNRB Gene Waardenburg Syndrome / Hirschsprung Disease Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Peripheral Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) – full coding region, splice sites, and regulatory elements |
| ICD-10-CM Code | Q43.1 (Hirschsprung disease), E70.3 (Waardenburg syndrome) |
| LOINC Code | 82863-9 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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