Test Price
2,800 AEDโ Home Collection Available
NRTN Gene Hirschsprung Disease Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity through ISO 9001:2015 certified processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM across all Emirates.
- Clinical Guidance: Post-test telephone consultation with Consultant Medical Geneticist Lina Quteineh (DHA 9294403) for result interpretation and family risk assessment.
- Insurance: Direct coverage verification via WhatsApp at +971 54 548 8731.
- Regulatory Compliance: DHA Facility License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Test Overview & Methodology
The NRTN Gene Hirschsprung Disease NGS Test analyses the entire coding region of the NRTN gene using next-generation sequencing, delivering a definitive molecular diagnosis for Hirschsprung disease and related neurocristopathies. This advanced genomic assay detects single nucleotide variants, small insertions/deletions, and copy number variations with >99.9% sensitivity.
| Parameter | Our NGS Test (UAE) | Conventional Single-Gene Sanger Sequencing |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) โ full gene coverage | Sanger sequencing โ limited to a few exons |
| Precision | >99.9% diagnostic sensitivity; detects copy number variants and deep intronic mutations | ~95% sensitivity for known point mutations only |
| Turnaround Time | 21 to 28 business days (3โ4 weeks) | 6 to 8 weeks |
| Sample Required | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) | Whole Blood only |
Physician Insight & Safety Protocols
โThis NGS test provides the molecular confirmation required for Hirschsprung disease, but it must always be interpreted alongside clinical, radiological, and histopathological findings. A negative result does not exclude the condition. I strongly advise involving a clinical geneticist or paediatric surgeon in the diagnostic pathway. Our service includes mandatory pre- and post-test genetic counselling.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Safety & Advisory Precautions
Important: This test is not a standalone screening tool. It is indicated only when clinical suspicion of Hirschsprung disease exists based on symptoms (chronic constipation, failure to pass meconium, abdominal distension) and/or family history. Do not discontinue any prescribed medications without explicit instruction from your managing physician. If acute abdominal distension, bilious vomiting, fever, or absolute constipation occur, seek emergency care immediately โ these may indicate toxic megacolon.
Contraindications & Exclusion Criteria
- Samples must be collected and transported within 24 hours under cold-chain conditions (2ยฐCโ8ยฐC). Haemolysed, clotted, or improperly stored specimens will be rejected.
- Patients with a known active infection (sepsis, meningitis) should delay sample collection until clinically stable, as determined by their physician.
- This test is contraindicated when the patient has undergone a blood transfusion within the past 7 days, as donor DNA may interfere with results.
- Paediatric patients must have written informed consent from a parent or legal guardian prior to sample collection.
Patient FAQ & Clinical Guidance
1. What is the NRTN Gene Hirschsprung Disease NGS Test?
This advanced genetic test uses next-generation sequencing to identify mutations in the NRTN gene responsible for Hirschsprung disease, ensuring accurate diagnosis and family risk assessment. It is the gold standard for molecular confirmation of this condition.
2. How long does it take to receive the results?
Turnaround time is typically 21 to 28 business days (3โ4 weeks) from receipt of an adequate sample at our ISO-accredited genomics laboratory. Results are delivered via secure digital portal and explained during a post-test telephone consultation with your designated genetic counsellor.
3. Is home blood collection available for this genetic test in the UAE?
Yes, we offer VIP Mobile Phlebotomy with temperature-controlled cold-chain logistics across all Emirates daily from 8 AM to 11 PM, including weekends and public holidays. A certified phlebotomist arrives at your home, collects the sample, and transports it directly to our laboratory under strict chain-of-custody protocols.
4. What should I do to prepare for the test?
No special preparation is required. However, please inform our team of any recent blood transfusions (within 7 days), active infections, or medications. A completed consent form and clinical questionnaire are mandatory before sample collection. Our team will guide you through the process after booking.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. DNA Labs UAE strictly complies with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL)
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields
- Federal Decree-Law No. 4 of 2016 on Medical Liability (ensuring clinical safety and informed consent)
All genetic data is encrypted and stored within UAE borders. Access is restricted to authorised clinicians and laboratory personnel. You have the right to request deletion of your data at any time. Our facility is licensed by the Dubai Health Authority (DHA Facility License No. 1143) and adheres to international quality standards (ISO 9001:2015, ISO 15189).
Clinical & Logistical Metadata
| Test Name | NRTN Gene Hirschsprung Disease NGS Test |
| Price (AED) | 2,800 |
| Turnaround Time | 21 to 28 business days (3โ4 weeks) |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) โ Full Gene Coverage |
| ICD-10-CM Code | Q43.1 |
| LOINC Code | 94215-7 |
| 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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