Test Price
2,800 AED✅ Home Collection Available
ABCD3 Gene Bile Acid Synthesis Defect Type 5, Congenital Genetic Test in UAE | 2800 AED | DHA Approved
Executive Summary & Core Metrics
Core Metrics & Services
- 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 for result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
- Laboratory: DNA Labs UAE - DHA Licensed Facility.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test screens the entire coding region of the ABCD3 gene to identify pathogenic variants causing congenital bile acid synthesis defect type 5, a rare peroxisomal disorder leading to neonatal cholestasis and liver failure. Results must be interpreted in the context of clinical findings and biochemical markers.
| Feature | Our DHA-Approved NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Diagnostic Precision | 99.9% analytical sensitivity for all exons | >99.9% but only for single variant |
| Methodology | NGS (Illumina® platform) with CNV detection | Sanger dideoxy sequencing, limited to targeted regions |
| Turnaround Time | 3-4 weeks, digital report | 4-6 weeks |
| Regulatory Compliance | DHA/MOHAP, ISO 9001:2015, UAE PDPL | Limited lab accreditation |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics, I emphasize that this genetic test is a cornerstone for early diagnosis of a life-threatening inborn error of bile acid metabolism, but results must be interpreted in conjunction with biochemical markers and clinical presentation. Do not delay urgent therapy based on pending results—clinical correlation is essential.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License: 9294403.
Safety Advisory & Medication Guidance
⚠️ Do not discontinue prescribed medication without consulting your doctor. Genetic results may influence bile acid supplementation therapy; any change must be supervised by a metabolic specialist. This test is not a substitute for immediate medical intervention in acute metabolic crisis.
Safety Exclusion Criteria & Red Flags
- Exclusion: Inability to provide informed consent (or legal guardian consent), acute febrile illness compromising sample integrity.
- Exclusion: Current use of exogenous bile acid therapy that may obscure enzymatic phenotype—stop only if advised by physician.
- ER Red Flag: Seek immediate emergency care if the patient develops acute liver failure signs: severe jaundice, hypoglycemia, coagulopathy, or encephalopathy.
Patient FAQ & Clinical Guidance
1. What is the purpose of this ABCD3 gene test?
This test identifies pathogenic mutations in the ABCD3 gene responsible for congenital bile acid synthesis defect type 5, enabling definitive diagnosis and family planning.
2. How should I prepare for the blood sample collection?
You must attend a pre-test genetic counseling session to draw a family pedigree, and no fasting is required unless specified by the phlebotomist.
3. Is my result confidential and compliant with UAE law?
Yes, all genomic data is encrypted and stored under the UAE Personal Data Protection Law (PDPL) and Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring strict privacy.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance
This test operates in full compliance with the following UAE federal laws and regulations:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring the confidentiality and security of personal and genomic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing digital health records and telemedicine.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – establishing clinical safety and patient consent standards.
All testing is performed at DNA Labs UAE, a DHA-licensed facility (License No. 1143) located in Dubai Healthcare City, adhering to ISO 9001:2015 quality management.
Clinical & Logistical Metadata
| Test Name | ABCD3 Gene Bile Acid Synthesis Defect Type 5, Congenital Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3-4 weeks |
| Sample Type / Matrix | Peripheral whole blood (standard) |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® platform with CNV detection |
| ICD-10-CM Code | E71.5 |
| LOINC Code | 81247-9 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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