Test Price
2,800 AEDโ Home Collection Available
NRG1 Gene Hirschsprung Disease Genetic Test in UAE | 2,800 AED | DHA Licensed
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189:2012 Accredited Process. Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM โ 11 PM) by a DHA-licensed practitioner. Clinical Oversight: Post-test telephonic guidance by Consultant Medical Geneticist Lina Osama Zaki Quteineh. Insurance: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced diagnostic assay utilizes Next-Generation Sequencing (NGS) on an Illumina platform to interrogate the coding regions and intron-exon boundaries of the NRG1 gene. Pathogenic variants in NRG1 are a well-established cause of Hirschsprung disease (congenital intestinal aganglionosis). Early and precise genetic confirmation is critical for surgical planning and family counseling.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity; full gene coverage (exons, intron boundaries) | Targeted only; may miss deep intronic variants |
| Method | Next-Generation Sequencing (Illumina platform, >1000x depth) | Capillary electrophoresis; limited throughput |
| Turnaround Time | 3โ4 Weeks (comprehensive analysis) | 2โ3 Weeks (may require reflex to NGS if negative) |
Physician Insight & Safety Protocols
"Interpreting genetic variants in the setting of suspected Hirschsprung disease requires a meticulous correlation of molecular data with the clinical phenotype and family history. My role is to ensure that every patient and family receives a comprehensive, comprehensible roadmap based on their unique genetic landscape." โ Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA-ID: 9294403)
Pre-Test Clinical Advisory
โ ๏ธ Do not discontinue any prescribed medications or alter your child's treatment regimen without explicit consultation with the referring pediatrician or pediatric surgeon. Genetic testing is a diagnostic adjunct, not a replacement for clinical management.
Exclusion Criteria & Emergency Red Flags
- Specimen collected in heparin tubes (use EDTA whole blood or DNA FTA card).
- Insufficient DNA yield (< 50 ng/ยตL) for library preparation.
- Incomplete or missing clinical history / pedigree chart for variant interpretation.
- Emergency Red Flags: Newborn presenting with bilious vomiting, abdominal distension, and failure to pass meconium within 24โ48 hours โ seek immediate neonatal surgical evaluation.
Patient FAQ & Clinical Guidance
1. What is the NRG1 gene Hirschsprung disease NGS test?
This is a comprehensive next-generation sequencing test that analyzes the full coding sequence and splice-site regions of the NRG1 gene. It is designed to detect pathogenic variants associated with Hirschsprung disease, providing a genetic diagnosis to guide surgical and clinical management.
2. How long does it take to receive results and what are the next steps?
Results are typically available within 3 to 4 weeks from sample receipt. A post-test telephonic consultation with our Consultant Medical Geneticist is provided to explain the findings, their implications for the patient, and recommendations for family cascade testing if applicable.
3. What are the specimen requirements and preparation instructions for this test?
No fasting is required. Acceptable specimens include 2โ5 mL of whole blood collected in an EDTA tube, a DNA FTA card, or 5 ยตg of extracted high-molecular-weight DNA. A detailed clinical history and pedigree chart must accompany the sample for optimal variant interpretation.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE strictly adheres to the 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 processed, stored, and transmitted under stringent confidentiality protocols, fully compliant with DHA regulatory standards for genetic and molecular diagnostics.
Clinical & Logistical Metadata
| Test Name | NRG1 Gene Sequencing (Hirschsprung Disease) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA / FTA Card) or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) |
| ICD-10-CM Code | Q43.1 |
| LOINC Code | 96603-3 |
| DHA Facility License & Address | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DHA License No: 1143 |
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