Test Price
2,800 AEDโ Home Collection Available
ATP8B1 Gene Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) Genetic Test in UAE | 2,800 AED
Executive Summary โ Clinical Certainty & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS processing.
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic counselling by a DHA-licensed medical geneticist.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
Test Overview & Methodology
The ATP8B1 Genetic Test identifies pathogenic variants causing Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1 / Byler disease), a severe autosomal recessive liver disorder. This test is designed for early diagnosis, family screening, and clinical management.
| Feature | Our ATP8B1 NGS Test | Standard Single-Gene Sequencing (Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) โ full gene & adjacent intronic regions | Sanger sequencing โ targeted known hotspot variants only |
| Diagnostic Yield | 99.9% sensitivity; detects novel & rare variants | ~85โ90% for common mutations; may miss large deletions |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Report | Clinical-grade report with ACMG classification and genetic counselling note | Basic variant list, limited interpretation |
Physician Insight & Safety Protocols
โThis test provides critical molecular confirmation of PFIC1. However, results must be correlated with clinical symptoms, liver biochemistry, and imaging. As a DHA-licensed medical geneticist, I emphasize that genetic testing does not replace urgent medical care for acute liver decompensation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory
Do not alter or stop any prescribed treatments, including ursodeoxycholic acid or rifampicin, without consulting your hepatologist. Genetic testing results are not a reason to modify therapy without medical supervision.
Safety Exclusion Criteria & Emergency Red Flags
- Acute liver failure with encephalopathy or coagulopathy โ seek immediate emergency care.
- Severe jaundice with ascites and bleeding diathesis.
- Known bile duct perforation or suspected biliary atresia requiring urgent surgical evaluation.
- This test is not suitable for real-time monitoring of hepatocellular carcinoma surveillance.
Patient FAQ & Clinical Guidance
1. What does the ATP8B1 gene test diagnose and who should consider it?
The test diagnoses Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) by detecting disease-causing variants in the ATP8B1 gene. It is recommended for infants with unexplained cholestasis, individuals with a family history, or couples planning pregnancy.
2. How is the sample collected, and is a home visit available in Dubai and Abu Dhabi?
A certified phlebotomist collects a small blood sample, a dried blood spot, or extracted DNA at your home, office, or hotel across the UAE between 8 AM and 11 PM, using a controlled temperature transport chain to preserve DNA integrity.
3. What are the advantages of Next-Generation Sequencing over traditional methods for PFIC1?
NGS provides comprehensive analysis of the entire ATP8B1 gene, detecting rare and novel mutations with 99.9% sensitivity, while Sanger sequencing is limited to known hotspots and may miss large genomic rearrangements.
UAE Regulatory & Data Privacy Adherence
This test is conducted in full 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. All clinical procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory is DHA-licensed and ISO 9001:2015 certified.
Clinical & Logistical Metadata
| Test Name | ATP8B1 Gene PFIC1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral blood, dried blood spot (FTA card), or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) โ whole gene and flanking intronic regions |
| ICD-10-CM Code | K76.81 |
| LOINC Code | 21638-4 |
| DHA Facility License & Laboratory Address | License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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