Test Price
2,800 AED✅ Home Collection Available
EDNRB Gene Hirschsprung Disease Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing, compliant 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.
- 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 for result interpretation by a DHA-licensed specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Genetic Test fully sequences the EDNRB gene, identifying pathogenic variants responsible for Hirschsprung disease to guide surgical management. The test is recommended by Pediatric Surgeons, Neonatologists, and Clinical Geneticists when clinical and radiological findings suggest aganglionosis. Next-Generation Sequencing (NGS) technology provides comprehensive coverage of all coding regions and splice sites, delivering a diagnostic sensitivity of 99.9%.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | NGS – full coding regions + splice sites | Single-exon Sanger sequencing |
| Turnaround Time | 3–4 Weeks | 2–3 Weeks |
| Diagnostic Sensitivity | 99.9% | ~95–98% |
| Sample Type | Blood, Extracted DNA, FTA Card spot | Blood only |
| ICD-10-CM Codes | Q43.1, Z14.8, Z13.79 | Same |
| LOINC | 77640-3 | — |
Pre-Test Instructions
- A detailed clinical history and a three-generation pedigree chart must be provided by the referring physician.
- A genetic counseling session is mandatory prior to sample collection, in accordance with UAE regulations governing genetic testing for minors.
- No fasting or medication adjustments are required; however, do not discontinue any prescribed medication without consulting your doctor.
- If a bone marrow transplant was performed within the last 3 months, please inform the laboratory as donor DNA may interfere.
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognize the profound concern families experience when Hirschsprung disease is suspected in a child. This DNA test offers definitive molecular confirmation, yet genetic data must always be integrated with clinical presentation and histological findings. I strongly advise parents to discuss all results with their pediatrician and genetic counselor before making any treatment decisions.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Guidelines for Genetic Testing
Genetic testing in pediatric patients requires careful pre-test counseling to ensure families understand the scope of results, including incidental findings. A certified genetic counselor should review the implications of identifying pathogenic variants in the EDNRB gene, particularly regarding carrier status and recurrence risks in future pregnancies. All results are reviewed by a DHA-licensed consultant before release.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent bone marrow transplant (≤3 months), active hematologic malignancy causing mixed chimerism.
- Emergency Red Flags: If your child develops acute abdominal distention, bilious vomiting, or signs of enterocolitis including fever and explosive diarrhea, proceed to the nearest Emergency Department immediately. Do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the EDNRB gene and its link to Hirschsprung disease?
The EDNRB gene encodes endothelin receptor type B, which is critical for neural crest cell migration during intestinal development. Pathogenic mutations disrupt this process, leading to aganglionosis in the distal colon, the hallmark of Hirschsprung disease.
2. How is the test performed?
A blood sample or DNA extracted from a buccal swab is sequenced using NGS to detect EDNRB variants. The laboratory extracts DNA, enriches target regions, and performs high-depth sequencing to identify single nucleotide variants, insertions, deletions, and splice-site alterations.
3. Can this be used for family planning?
Yes, once a familial EDNRB mutation is confirmed, carrier screening and prenatal genetic counseling are available for at-risk relatives. Results can inform reproductive options including preimplantation genetic testing.
4. How long does it take to receive results?
The standard turnaround time is 3 to 4 weeks from sample receipt. This allows for full gene sequencing, bioinformatics analysis, and clinical validation by a consultant geneticist.
UAE Regulatory & Data Privacy Adherence
This test and all associated data handling procedures comply with UAE federal legislation:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure collection, storage, and transfer of genetic and personal data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing electronic health records and telemedicine integration.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing patient consent requirements and clinical safety standards for genetic testing.
All data remains within UAE borders and is processed on secure, ISO 9001:2015 certified infrastructure.
Clinical & Logistical Metadata
| Test Name | EDNRB Gene Hirschsprung Disease Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Blood, Extracted DNA, FTA Card spot |
| Methodology Used | NGS – full coding regions + splice sites |
| ICD-10-CM Code | Q43.1, Z14.8, Z13.79 |
| LOINC Code | 77640-3 |
| 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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