Test Price
2,800 AED✅ Home Collection Available
AMACR Gene NGS Genetic Test for Bile Acid Synthesis Defect Type 4 – UAE | 2800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified 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 in result interpretation by DHA-licensed genetics specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The AMACR Gene NGS Test identifies pathogenic variants causing congenital bile acid synthesis defect type 4, a rare peroxisomal disorder that leads to severe neonatal liver disease. This full-gene analysis delivers definitive molecular diagnosis for accurate clinical management, family screening, and reproductive planning.
| Feature | Our Test (AMACR NGS) | Closest Alternative (Targeted Mutation Panel) |
|---|---|---|
| Methodology | Full Gene Next Generation Sequencing (NGS) | Limited hotspot analysis by Sanger sequencing |
| Variant Detection | Single nucleotide variants, indels, copy number changes | Known mutations only, misses novel variants |
| Turnaround Time | 3–4 Weeks* | 2–3 Weeks |
| Clinical Utility | Definitive diagnosis, family screening, prenatal planning | Limited to common mutations; may require reflex to full gene test |
*Post-analytical interpretation includes pathogenicity assessment per DHA guidelines.
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration: 9294403): "As a clinical geneticist, I emphasize that the AMACR NGS test must be interpreted within the full clinical context of liver function, bile acid profiles, and developmental milestones. A positive result confirms the diagnosis and guides specialist management, but a negative result does not exclude all inborn errors of bile acid metabolism; further biochemical testing may be needed."
⚠️ Medication Advisory
Do not discontinue prescribed medication without consulting your doctor. Genetic test results should never be used in isolation to alter therapy. Always discuss findings with your healthcare provider before making any changes.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Recent blood transfusion (< 2 weeks) may affect DNA quality; non-consent for genetic data storage; inability to provide clinical history for interpretation.
- Seek immediate medical attention if: Your child develops worsening jaundice, pale stools, poor feeding, vomiting, or lethargy – these may indicate acute liver decompensation.
- Emergency Red Flags: Uncontrolled bleeding, sudden neurological deterioration, or signs of sepsis require urgent pediatric hepatology evaluation, not just genetic testing.
Patient FAQ & Clinical Guidance
1. What is the AMACR gene NGS test used for?
This test sequences the AMACR gene to diagnose congenital bile acid synthesis defect type 4, a liver-threatening metabolic disorder. It identifies disease-causing mutations with high precision, enabling early intervention and family genetic counseling.
2. Why is genetic counselling mandatory for this test?
Pre- and post-test genetic counselling ensures understanding of autosomal recessive inheritance and informed reproductive decisions. A certified genetic counsellor will draw a pedigree chart and discuss implications for family members.
3. How soon will I receive the results?
The NGS analysis requires 3–4 weeks; a comprehensive clinical report will be delivered securely via our portal. Urgent preliminary findings for acute neonatal cases can be prioritized upon request.
UAE Regulatory & Data Privacy Adherence
- Licensed by the Dubai Health Authority (DHA) under Facility License No. 1143.
- Compliant 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 testing and patient consent adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- All genetic data stored securely with ISO 9001:2015 certified processes; no data shared without explicit consent.
- Corporate Laboratory: DNA Labs UAE – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
For appointments or insurance inquiries, WhatsApp: +971 54 548 8731. Home collection available in all seven emirates via VIP Mobile Phlebotomy.
Clinical & Logistical Metadata
| Test Name | AMACR Gene NGS Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole Blood (Peripheral) |
| Methodology Used | Next Generation Sequencing (NGS) – Full Gene Analysis |
| ICD-10-CM Code | E71.5 |
| LOINC Code | 47956-1 |
| DHA Facility License & Laboratory Address | DHA License: 1143 Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE Brand: DNA Labs UAE |
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