Test Price
2,800 AED✅ Home Collection Available
NR1H4 Gene Sequencing for Infantile Cholestasis (NR1H4-Related) – Genetic Test in UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: >99.9% sensitivity for all coding variants via ISO 9001:2015 validated workflow.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM to 11 PM.
- Clinical Follow-Up: Dedicated post-test telephone consultation with a Consultant Medical Genetics specialist for result interpretation.
- Insurance Verification: Direct coverage check via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This NGS-based genetic test sequences the entire NR1H4 gene to identify pathogenic variants responsible for infantile cholestasis and Progressive Familial Intrahepatic Cholestasis type 5 (PFIC5). The assay employs high-throughput sequencing on HiSeq/NovaSeq platforms to deliver comprehensive coverage of all coding exons and splice sites.
| Feature | Our Test (NGS Full Gene Sequencing) | Closest Alternative (Targeted Genotyping / Sanger) |
|---|---|---|
| Diagnostic Precision | >99.9% sensitivity for all coding variants | Limited to known hotspots; may miss novel mutations |
| Methodology | Next Generation Sequencing (HiSeq / NovaSeq platforms) | Sanger sequencing of selected exons |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I recognise the deep concern a possible genetic diagnosis brings to families. This NR1H4 sequencing report provides essential molecular confirmation, but it must always be evaluated alongside the infant’s clinical presentation, liver function parameters, and imaging studies. Never base a therapeutic decision solely on this genetic result—consult your paediatric hepatologist or neonatologist for integrated management.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Critical Medication Advisory
Do not discontinue any prescribed medication or modify your child’s treatment without consulting the treating physician.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Inability to obtain a blood or DNA sample; non‑consent for genetic testing as per UAE paediatric consent regulations (Federal Decree-Law No. 4 of 2016 on Medical Liability).
- Emergency Red Flags – Seek immediate medical attention if: New onset of persistent jaundice with pale stools, intractable vomiting, bleeding tendency, or signs of acute liver failure (lethargy, hypoglycaemia).
Patient FAQ & Clinical Guidance
1. What is the NR1H4 gene test for infantile cholestasis?
A diagnostic NGS panel targeting the NR1H4 gene to detect mutations causing PFIC5 and guide therapy. The test identifies pathogenic variants across all coding exons and intron-exon boundaries with >99.9% sensitivity.
2. How is the sample collected for the NR1H4 test?
A simple blood draw (EDTA tube) or a drop of blood on an FTA card is sufficient for analysis. Our VIP Mobile Phlebotomy service performs home collection under ISO-certified cold-chain conditions daily from 8 AM to 11 PM.
3. How long does it take to receive the NR1H4 sequencing results?
Results are typically available within 3 to 4 weeks from sample receipt at our DHA-licensed laboratory, ensuring thorough bioinformatic analysis and clinical variant interpretation.
UAE Regulatory & Data Privacy Adherence
Data Protection & Health Information Governance: All genetic data is processed in strict 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. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Accreditation: ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Medically Reviewed by: Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403.
Clinical & Logistical Metadata
| Test Name | NR1H4 Gene Sequencing for Infantile Cholestasis (NR1H4-Related) – Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (EDTA), Extracted DNA, or FTA Card Blood Spot |
| Methodology Used | Next Generation Sequencing (NGS) on HiSeq / NovaSeq Platforms |
| ICD-10-CM Code | K76.8 |
| LOINC Code | 21636-6 |
| DHA Facility License & Lab Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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