Test Price
2,800 AED✅ Home Collection Available
ATP8B1 Gene Sequencing for Benign Recurrent Intrahepatic Cholestasis (BRIC) – Genetic Test in UAE | 2800 AED
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 dedicated genetic counsellor.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This advanced Next-Generation Sequencing (NGS) test comprehensively analyses the ATP8B1 gene for pathogenic variants linked to benign recurrent intrahepatic cholestasis (BRIC), a rare autosomal recessive liver disorder. Massively parallel sequencing enables full coverage of the coding region and splice sites, delivering diagnostic yield greater than 99% for single nucleotide variants and small insertions/deletions.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Method | Massively Parallel Sequencing (NGS) | Single-amplicon Sanger Sequencing |
| Gene Coverage | Full coding region + splice sites | Limited to known hotspots |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Diagnostic Yield | >99% for SNVs & indels | ~85% for targeted regions |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that this genetic test provides the definitive molecular diagnosis for benign recurrent intrahepatic cholestasis. It enables tailored surveillance, treatment adjustments, and informed family planning. Always correlate results with the full clinical picture and consult your hepatologist for personalized management.” — Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not discontinue any prescribed medication (e.g., ursodeoxycholic acid, rifampicin, or anti-pruritics) without consulting your managing physician. Abrupt withdrawal may precipitate acute cholestatic episodes.
Patient Safety & Exclusion Criteria
- Exclusion Criteria: Minors without legal guardian consent, individuals with acute decompensated liver failure, or inability to provide a venous blood sample.
- ER Red Flags: Seek emergency care immediately if you develop jaundice, ascites, confusion (hepatic encephalopathy), severe vomiting, or intractable pruritus despite treatment.
- Sample Rejection: Haemolysed, clotted, or insufficient volume specimens will be rejected; a recollection will be arranged at no additional cost.
Patient FAQ & Clinical Guidance
1. What is an ATP8B1 gene test, and why is it needed?
This Next-Generation Sequencing test analyzes the ATP8B1 gene for mutations causing benign recurrent intrahepatic cholestasis, a genetic disorder characterized by intermittent obstructive jaundice and intense pruritus. Without this test, diagnosis relies solely on clinical symptoms which can mimic other hepatobiliary conditions. Early genetic confirmation enables targeted therapy, reduces unnecessary invasive procedures, and facilitates cascade screening for family members.
2. How should I prepare for the blood collection for this genetic test?
You do not need to fast, but we require a completed clinical history form and a pre-genetic counselling session to draw a detailed pedigree chart of affected family members. This mandatory step ensures accurate variant interpretation and prevents unnecessary anxiety. Our mobile phlebotomist will collect 5–10 mL of peripheral blood in an EDTA tube at your preferred location between 8 AM and 11 PM daily.
3. What does a positive ATP8B1 mutation result mean for my family?
A positive result confirms autosomal recessive inheritance, meaning both parents are carriers and each subsequent child has a 25% risk of developing BRIC. Cascade screening for at-risk relatives is strongly recommended to enable early surveillance and intervention. Our genetic counsellor will guide you through the implications and coordinate testing for first-degree relatives if desired.
UAE Regulatory & Data Privacy Adherence
This service is provided under the UAE 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 encrypted and processed exclusively within UAE jurisdiction. Clinical safety and patient consent are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ATP8B1 Gene Sequencing for Benign Recurrent Intrahepatic Cholestasis (BRIC) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral blood (EDTA whole blood) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Massively Parallel Sequencing |
| ICD-10-CM Code | K76.89 (Benign recurrent intrahepatic cholestasis) |
| LOINC Code | 55233-1 (Genetic analysis master panel) |
| DHA Facility License & Laboratory Address | Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE – DNA Labs UAE |
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