Test Price
2,800 AED✅ Home Collection Available
ATP8B1 Gene Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) Genetic Test in UAE | 2,800 AED | 2026 DHA Guidelines
تحليل جين ATP8B1 للكشف عن ركود صفراوي عائلي مترقٍ داخل الكبد من النوع الأول (PFIC1) في الإمارات | 2,800 درهم | معتمد من هيئة الصحة بدبي
Executive Summary – Clinical Certainty & Premium Care
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 certified NGS processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by a DHA-licensed gastroenterology genetic panel.
- Insurance: Direct Billing Verification via WhatsApp: +971 54 548 8731.
ملخص تنفيذي: نقدم تحليلًا جينيًا متطورًا لتشخيص الركود الصفراوي العائلي المترقي داخل الكبد من النوع الأول (داء بايلر) باستخدام تقنية التسلسل الجيني من الجيل التالي (NGS)، بضمان دقة تشخيصية تصل إلى 99.9% تحت إشراف هيئة الصحة بدبي، مع خدمة سحب منزلي فاخرة واستشارة ما بعد الفحص.
Comprehensive Test Overview
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.
يكشف هذا الفحص عن الطفرات المسببة لمرض الركود الصفراوي العائلي المترقي من النوع الأول، وهو اضطراب كبدي وراثي يتطلب تشخيصًا دقيقًا.
| Feature | Our ATP8B1 NGS Test | Standard Single-Gene Sequencing (Sanger) |
|---|---|---|
| Methodology | Next-Generation Sequencing (NGS) – full gene & adjacent intronic regions | Sanger sequencing – targeted known hotspot variants only |
| Diagnostic Yield | 99.9% sensitivity; detects novel & rare variants | ~85–90% for common mutations; may miss large deletions |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Report | Clinical-grade report with ACMG classification and genetic counselling note | Basic variant list, limited interpretation |
Your Clinical Specialist Team
Directs diagnostic workup for cholestatic jaundice, interprets bile acid profiles, and manages long-term hepatic care.
Provides pre- and post-test genetic counselling, constructs pedigree charts, and advises on recurrence risk and family planning.
Identifies early signs of PFIC1 in infancy (pruritus, failure to thrive), coordinates timely genetic testing to prevent irreversible liver damage.
Pre-Test Requirements
A comprehensive clinical history evaluation and a mandatory genetic counselling session are required to draw a pedigree chart of family members affected with Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1). No special dietary restrictions; the sample can be collected as a standard blood draw, extracted DNA, or a single dried blood spot on an FTA card.
Physician Insight & Safety Protocol
“This test provides critical molecular confirmation of PFIC1. However, results must be correlated with clinical symptoms, liver biochemistry, and imaging. As a DHA-licensed physician, I emphasize that this gene panel does not replace urgent care for acute liver decompensation.”
— Dr. PRABHAKAR REDDY, DHA License No. 61713011
⚠ Medication Warning
Do not discontinue prescribed medication (e.g., ursodeoxycholic acid, rifampicin) without consulting your doctor. Genetic testing is not an indication to alter therapy prematurely.
Safety Exclusion Criteria & Emergency Red Flags
- Acute liver failure with encephalopathy or coagulopathy – 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 diagnoses Progressive Familial Intrahepatic Cholestasis Type 1 (PFIC1) by detecting disease-causing variants in the ATP8B1 gene, and is recommended for infants with unexplained cholestasis, individuals with a family history, or couples planning pregnancy. يكشف الاختبار عن طفرات جين ATP8B1 المسببة للركود الصفراوي العائلي المترقي من النوع الأول ويوصى به للرضع المصابين بركود صفراوي غير مفسر أو للتاريخ العائلي الإيجابي.
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 (or a single dried blood spot) at your home, office, or hotel across the UAE between 8 AM and 11 PM, using a refrigerated transport chain that preserves DNA integrity. يتم سحب عينة دم صغيرة (أو بقعة دم جافة) منزليًا بواسطة ممرض معتمد مع سلسلة تبريد للحفاظ على الحمض النووي.
3. What are the advantages of Next-Generation Sequencing over traditional methods for PFIC1?
NGS provides a 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. يوفر التسلسل من الجيل التالي تحليلًا شاملًا لجين ATP8B1 بحساسية 99.9% مقارنة بالتسلسل التقليدي الذي قد يغفل طفرات نادرة.
Compliant with Federal Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), and UAE Personal Data Protection Law (PDPL). ISO 9001:2015 Certified (Cert: INT/EGQ/2509DA/3139). Facility License No. 9834453.
Accredited by DHA. All genetic counselling sessions adhere to DHA Telehealth regulations.
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All reports reviewed by DHA-Certified physicians