Test Price
2,800 AED✅ Home Collection Available
HSD3B7 Gene (Bile Acid Synthesis Defect Type 1, Congenital) Genetic Test in UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 Accredited Processing.
Premium Logistics: Hospital-Grade Home Collection (8 AM–11 PM) via ISO-Certified Cold-Chain Transport & VIP Mobile Phlebotomy.
Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-Licensed Experts.
Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
This DNA test uses Next‑Generation Sequencing (NGS) to examine the full coding region of the HSD3B7 gene. It definitively diagnoses congenital bile acid synthesis defect type 1 (BASD1), a rare metabolic hepatopathy that impairs bile acid production and leads to progressive liver disease if untreated.
Test Overview & Methodology
The HSD3B7 gene encodes the enzyme 3β-hydroxy-Δ5-C27-steroid dehydrogenase, which is critical for bile acid biosynthesis. Pathogenic variants in this gene cause accumulation of toxic bile acid intermediates, leading to cholestasis, pruritus, and liver failure. Our NGS assay provides comprehensive analysis of the entire coding region plus intron-exon boundaries, with deletion and duplication detection via bioinformatic algorithms.
| Parameter | Our Test (HSD3B7 NGS) | Closest Alternative |
|---|---|---|
| Diagnostic Precision | Full gene sequencing + deletion/duplication analysis | Limited panel may miss rare variants |
| Methodology | NGS (Next‑Generation Sequencing) with bioinformatic confirmation | Sanger sequencing for selected exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Cost | 2800 AED | Variable, often higher with separate counseling fees |
| Regulatory Status | DHA‑Licensed Facility (1143), ISO 9001:2015 | May lack UAE‑specific accreditation |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “This test should always be interpreted alongside biochemical markers and hepatic imaging. A negative result does not exclude the diagnosis if clinical suspicion remains high; a positive result guides life‑saving early bile acid replacement. Close collaboration with a metabolic geneticist is essential for optimal patient outcomes.”
Advisory: Medication & Clinical Care Continuity
Exclusion Criteria & Emergency Red Flags
- Exclusion: Active febrile illness or suspected sepsis at the time of blood draw (may affect DNA extraction quality).
- Exclusion: Known history of severe dermatological conditions over venipuncture sites (consider buccal swab or FTA card alternative).
- Red Flag: If the patient develops rapidly worsening jaundice, encephalopathy, or coagulopathy, proceed immediately to the ER and inform the hepatology team.
- Red Flag: Syncope or anaphylactoid reaction during/after sample collection warrants urgent cessation and emergency medical support.
Patient FAQ & Clinical Guidance
1. What is the HSD3B7 gene test and who needs it?
Key Insight: This NGS test analyses the HSD3B7 gene to diagnose congenital bile acid synthesis defect type 1 with 99.9% accuracy. It is recommended for infants with unexplained cholestasis, siblings of affected individuals, and adults with late‑onset atypical liver disease where a metabolic etiology is suspected. The test utilizes DNA from blood, FTA cards, or extracted DNA and includes detailed genetic counseling.
2. How is the sample collected and is home service available?
Key Insight: A simple blood draw, DNA extraction, or one drop blood on FTA card is collected via our VIP mobile phlebotomy service. We offer hospital‑grade home collection across the UAE from 8 AM to 11 PM, with cold‑chain transport ensuring sample viability. The procedure is minimally invasive; for neonates, a heel‑prick or FTA card method is available upon request.
3. What is the turnaround time, cost, and insurance process?
Key Insight: Results are delivered within 3 to 4 weeks at a total cost of 2800 AED, including genetic counseling. Direct insurance billing can be verified instantly via WhatsApp; we accept most UAE medical insurance plans. The report includes a clinical interpretation and actionable recommendations, with an option for a telephonic discussion with our DHA‑licensed geneticist.
UAE Regulatory & Data Privacy Adherence
Your genetic data is handled with the highest security standards in 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. Clinical safety and patient consent procedures are governed by Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143 and maintains ISO 15189 and ISO 9001:2015 accreditation for quality management.
Clinical & Logistical Metadata
| Test Name | HSD3B7 Gene (Bile Acid Synthesis Defect Type 1, Congenital) Genetic Test |
| Price (AED) | 2800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood, FTA Card, or Extracted DNA |
| Methodology Used | Next‑Generation Sequencing (NGS) with Bioinformatic Confirmation |
| ICD-10-CM Code | E80.7 |
| LOINC Code | 81825-0 |
| DHA Facility License & Laboratory Address Invariants | DHA License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians