Test Price
2,800 AED✅ Home Collection Available
AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test in Dubai, UAE
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% sensitivity for AKR1D1 pathogenic variant detection via ISO 15189 accredited Next Generation Sequencing platform.
- Collection Logistics: VIP Mobile Phlebotomy with temperature-controlled cold-chain transport available daily from 8 AM to 11 PM across all Dubai residential areas.
- Post-Test Support: Dedicated telephonic genetic counseling session with result interpretation and multidisciplinary care coordination.
- Insurance Verification: Submit your policy for direct billing confirmation via WhatsApp at +971 54 548 8731.
DHA Licensed Facility
License No. 1143
ISO 15189:2012
Dubai Healthcare City
Test Overview & Methodology
The AKR1D1 gene sequencing test provides definitive molecular diagnosis of congenital bile acid synthesis defect type 2, also known as 5β-reductase deficiency. This rare autosomal recessive disorder presents with neonatal cholestasis, progressive intrahepatic cholestasis, and risk of liver failure if untreated. Comprehensive analysis of the AKR1D1 coding region and splice junctions identifies all documented pathogenic variants, enabling targeted therapeutic intervention with bile acid replacement therapy.
| Feature | DNA Labs UAE – NGS Full Gene | Alternative Approach |
|---|---|---|
| Methodology | Next Generation Sequencing – complete coding region, splice sites, and flanking intronic regions | Targeted variant PCR or Sanger sequencing limited to known founder mutations |
| Diagnostic Yield | >99.9% detection rate across all AKR1D1 variant classes | ~70–80% for recurrent variants only |
| Turnaround Time | 3–4 Weeks | 1–2 Weeks for targeted genotyping |
| Report Depth | ACMG/AMP variant classification, phenotype correlation, cascade screening guidance | Limited to presence or absence of tested variants |
| ICD-10-CM Codes | E78.7, Z15.89, K76.8 | Not routinely assigned |
| LOINC Mapping | 79765-3 | Not universally mapped |
Physician Insight & Safety Protocols
Clinical Perspective from Ms. Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA Registration ID: 9294403): “The AKR1D1 NGS assay delivers high-confidence molecular confirmation for suspected bile acid synthesis disorders, but results must always be correlated with serum bile acid profiles, liver biochemistry, and ultrasonographic findings. A pathogenic variant requires immediate referral to pediatric hepatology for initiation of oral bile acid therapy. A negative result does not exclude other cholestatic etiologies such as PFIC or Alagille syndrome; ongoing clinical surveillance remains essential.”
Clinical Advisory
Genetic test results must not be used as the sole basis for initiating, adjusting, or discontinuing any medication including ursodeoxycholic acid, fat-soluble vitamin supplements, or dietary modifications. Treatment decisions require integration of molecular findings with longitudinal clinical assessment by a qualified metabolic specialist. Patients who develop worsening jaundice, acholic stools, or signs of hepatic encephalopathy should present to the nearest emergency department without delay regardless of test result status.
Exclusion Criteria
- Home phlebotomy is not available for patients with active bleeding diathesis, severe thrombocytopenia, or hemodynamic instability.
- A minimum of 2 mL peripheral blood collected in EDTA is required; insufficient volume will necessitate recollection.
- Patients with a history of allogeneic bone marrow transplant may show donor-derived genomic profiles; transplant status must be disclosed prior to testing.
- Genetic counseling and informed consent documenting a three-generation pedigree must be completed before sample collection.
Patient FAQ & Clinical Guidance
1. What is the AKR1D1 gene test and what condition does it identify?
This test detects disease-causing variants in the AKR1D1 gene responsible for congenital bile acid synthesis defect type 2, also called 5β-reductase deficiency. The condition impairs the conversion of 7α-hydroxycholesterol to 7α-hydroxy-3-oxo-4-cholestenoic acid, leading to accumulation of toxic bile acid intermediates that cause progressive neonatal liver injury. Early molecular diagnosis enables prompt initiation of oral bile acid replacement therapy, which can reverse hepatic damage and prevent transplant.
2. How is the sample collected and what preparation is required for my child?
No fasting is necessary. A trained pediatric phlebotomist will collect 2 mL of venous blood using a 23-gauge butterfly needle with topical anesthetic. Our VIP mobile service operates across Dubai from 8 AM to 11 PM with temperature-controlled specimen transport to the laboratory. Prior to collection, a genetic counselor will contact you to complete family pedigree documentation, review consent, and request any prior bile acid profiles or liver function tests for correlation.
3. What do the results mean and what are the subsequent medical steps?
A positive result confirms the molecular diagnosis and directs immediate referral to pediatric hepatology for bile acid replacement therapy, which can significantly improve outcomes. The report includes ACMG variant classification and management recommendations. A negative result reduces but does not eliminate the possibility of a bile acid disorder; the clinician may pursue additional biochemical testing or broader genomic studies. All results are accompanied by a telephonic consultation with our genetics team to coordinate care with your managing physician.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) governing the collection, processing, and storage of genetic and health data. All clinical information is handled in accordance with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure electronic health record management. Patient safety and informed consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE holds DHA Facility License No. 1143 and maintains ISO 15189 accreditation for molecular genetic testing.
Clinical & Logistical Metadata
| Test Name | AKR1D1 Gene Bile Acid Synthesis Defect Type 2 Congenital Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM) |
| Methodology Used | Next Generation Sequencing (NGS) – Full gene coding region, splice sites, and flanking intronic regions |
| ICD-10-CM Code | E78.7, Z15.89, K76.8 |
| LOINC Code | 79765-3 |
| 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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