Test Price
2,800 AED✅ Home Collection Available
EDN3 Gene Hirschsprung Disease Genetic Test in UAE | 2800 AED | DNA Labs UAE
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing.
- 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 by a DHA-licensed genetics team.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731. We handle pre-authorization for major UAE networks.
Test Overview & Methodology
The EDN3 gene NGS test is a comprehensive DNA analysis that detects pathogenic variants in the endothelin-3 gene, a key contributor to Hirschsprung disease (congenital megacolon). This test employs next-generation sequencing to provide full gene coverage including exon-intron boundaries, enabling early diagnosis and informed family planning.
| Feature | Our Test (PrecisionSeq™) | Closest Alternative |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) – Full gene coverage, including exon-intron boundaries | Sanger sequencing of hotspot exons only |
| Turnaround Time | 3–4 Weeks (with interim verbal update) | 5–6 Weeks |
| Diagnostic Sensitivity | 99.9% for SNVs & small indels (validated by orthogonal confirmation) | ~85% (limited gene coverage) |
Physician Insight & Safety Protocols
“As a Consultant Medical Geneticist, I emphasize that an EDN3 gene result must be correlated with clinical symptoms, family history, and a complete dysmorphology examination. A positive finding enables early surgical planning and genetic counseling, but a negative result does not rule out other genetic causes such as RET, GDNF, or SOX10 variants. Always pursue a comprehensive gene panel and consult a clinical geneticist for a definitive workup.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
⚠ Important Advisory:
Do not discontinue or alter any prescribed medication without consulting your treating physician. This genetic test is intended to inform clinical decision-making and is not a substitute for ongoing medical management or emergency care.
Safety Exclusion Criteria & Red Flags
- Acute febrile illness or active infection (phlebotomy contraindicated).
- Inability to provide informed consent or missing pre-test genetic counseling session.
- ER Red Flags: If the patient (especially a newborn) develops severe abdominal distension, bilious vomiting, or failure to pass meconium within 48 hours of birth, seek emergency care immediately regardless of test scheduling.
Patient FAQ & Clinical Guidance
1. What does the EDN3 gene test detect and who needs it?
Key answer: This test identifies DNA changes in the EDN3 gene that cause or increase risk for Hirschsprung disease. It is primarily indicated for newborns with intestinal obstruction, older children with chronic constipation refractory to standard therapy, and individuals with a family history of Hirschsprung disease or related neurocristopathies.
2. How is the sample collected and what is the pre-preparation?
Key answer: A simple blood draw (or one drop on an FTA card) is collected by our VIP mobile phlebotomy team after a mandatory genetic counseling session to map your family pedigree. No special fasting or medication adjustment is required unless specified by your referring physician.
3. When will I receive the results and what do they mean?
Key answer: Results are delivered within 3–4 weeks with a telephonic explanation from our genetics team. A positive report confirms a genetic predisposition to Hirschsprung disease and must be discussed with your pediatrician or clinical geneticist to plan surgical intervention, surveillance, and family screening.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance: DNA Labs UAE operates under DHA Facility License No. 1143 and adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) for all patient data handling. Clinical testing and reporting follow Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields to ensure secure electronic health data exchange. Patient consent and safety protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genetic data is encrypted, access-controlled, and never shared without your explicit written consent.
Clinical & Logistical Metadata
| Test Name | EDN3 Gene Hirschsprung Disease Genetic Test (NGS) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks (with interim verbal update) |
| Sample Type / Matrix | Peripheral whole blood (EDTA) or FTA card dried blood spot |
| Methodology Used | Next Generation Sequencing (NGS) – full gene coverage, including exon-intron boundaries with orthogonal Sanger confirmation |
| ICD-10-CM Code | Q43.1 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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