Test Price
2,800 AEDโ Home Collection Available
ABCB4 Gene Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3) Genetic Test โ NGS Analysis in UAE | 2800 AED
Executive Summary & Core Metrics
- โ99.9% Diagnostic Sensitivity โ ISO 9001:2015 Certified Laboratory (Cert: INT/EGQ/2509DA/3139) with clinically validated NGS protocols.
- โPremium Home Collection โ ISO-certified cold-chain phlebotomy and VIP mobile service across all Emirates, 8 AM โ 11 PM.
- โPost-Test Clinical Guidance โ Complimentary telephonic result interpretation by a DHA-licensed clinical genetic counsellor.
- โDirect Insurance Billing โ WhatsApp verification at +971 54 548 8731.
Test Overview & Methodology
The ABCB4 Genetic Test screens the entire coding region of the ABCB4 gene for pathogenic variants linked to progressive familial intrahepatic cholestasis type 3 (PFIC3). This high-resolution analysis provides definitive genetic confirmation for patients with unexplained cholestasis and enables cascade testing in at-risk relatives. The test utilizes next-generation sequencing (NGS) technology to deliver comprehensive variant detection, including single nucleotide variants (SNVs), small insertions/deletions (indels), and copy-number variations (CNVs) across all coding exons and intronic boundaries.
| Parameter | Our Test (NGS) | Standard Single-Gene Sequencing |
|---|---|---|
| Methodology | Next-Generation Sequencing (Illumina, 100x depth) | Sanger sequencing (limited to known hotspots) |
| Coverage | Full ABCB4 coding exons ยฑ10 bp intronic boundaries | Only pre-specified mutations |
| Variant Detection | SNVs, indels, and copy-number variations | SNVs and small indels only |
| Turnaround Time | 3โ4 weeks | 4โ6 weeks |
| Clinical Decision Support | Integrated ACMG variant interpretation & DHA-approved report | Basic genotype only |
Physician Insight & Safety Protocols
โAt our centre, we view the ABCB4 NGS test as a pivotal toolโwhen combined with liver biochemistry and imaging, it unravels the genetic origin of cholestasis and guides tailored management. A negative result does not rule out other PFIC subtypes or acquired liver diseases; therefore, clinicians must interpret findings within the patientโs full clinical picture. My team and I are committed to providing empathetic, evidence-based post-test counselling.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Clinical Advisory
Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results are complementary and must never replace ongoing medical therapy. This test is intended for diagnostic confirmation and family risk assessment, not for routine monitoring of treatment efficacy.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with acute liver failure requiring intensive care, hemodynamic instability, or those unable to provide informed consent.
- Exclusion: This test is not designed for emergent diagnosis of acute cholestasis or drug-induced liver injury.
- ER Red Flag: Sudden onset of jaundice, severe pruritus with excoriations, ascites, or altered mental status (hepatic encephalopathy) โ seek emergency medical attention immediately.
Patient FAQ & Clinical Guidance
1. What does the ABCB4 gene test detect?
The ABCB4 Genetic Test identifies pathogenic variants in the ABCB4 gene responsible for progressive familial intrahepatic cholestasis type 3 (PFIC3), aiding diagnosis and family screening. This includes detection of both known and novel mutations that impair bile phospholipid transport. Results help clinicians confirm the diagnosis and provide targeted management strategies for affected individuals.
2. How is the sample collected and what is the turnaround time?
A simple blood sample is collected by our certified phlebotomist during a home visit, with results delivered in 3 to 4 weeks. All samples are transported in temperature-controlled coolers under ISO-certified chain of custody. The VIP mobile phlebotomy service operates daily from 8 AM to 11 PM across all seven emirates.
3. Are results confidential and legally compliant?
All genetic data is protected under UAE PDPL (Federal Decree-Law No. 45 of 2021) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring your privacy and banning unauthorized data sharing. Our laboratory also adheres to ISO 27001 information security management, and reports are released only to the authorized ordering physician. Clinical safety and consent protocols are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
4. What follow-up care is provided after the test?
Post-test clinical guidance is included in the test fee, providing a complimentary telephonic session with a DHA-licensed clinical genetic counsellor. This ensures that patients and their families receive personalized interpretation of results, risk assessment for relatives, and appropriate referral to hepatology or paediatric specialists if required.
UAE Regulatory & Data Privacy Adherence
This genetic testing service is fully compliant with the UAE's data protection and health information security frameworks. All patient data is processed in accordance 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 are strictly followed as per Federal Decree-Law No. 4 of 2016 on Medical Liability. The laboratory maintains ISO 9001:2015 certification for quality management and follows international guidelines for genetic data handling and variant interpretation (ACMG). No patient data is shared with third parties without explicit written consent. All reports are securely stored and transmitted via encrypted channels to the ordering physician only.
Clinical & Logistical Metadata
| Test Name | ABCB4 Gene Progressive Familial Intrahepatic Cholestasis Type 3 (PFIC3) Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 weeks |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube) |
| Methodology Used | Next-Generation Sequencing (Illumina, 100x coverage) |
| ICD-10-CM Code | K76.89 (Other specified diseases of liver), K83.1 (Obstruction of bile duct), Z83.79 (Family history of other endocrine, nutritional and metabolic diseases) |
| LOINC Code | 81273-7 (ABCB4 gene full sequencing in Blood or Tissue by NGS) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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