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Test Price

2,800 AED

✅ Home Collection Available

AMACR Gene Sequencing (Alpha‑Methylacyl‑CoA Racemase Deficiency) in UAE | 2800 AED | DHA Licensed

Executive Summary & Core Metrics

  • Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
  • Premium Logistics: VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (available daily 8 AM – 11 PM).
  • Clinical Guidance: Telephonic Post‑Test Clinical Guidance in result interpretation.
  • Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.

Test Overview & Methodology

AMACR Gene Sequencing is a Next‑Generation Sequencing (NGS) test that fully analyzes the alpha‑methylacyl‑CoA racemase gene to identify pathogenic variants responsible for adult‑onset sensory motor neuropathy and bile acid synthesis defects. This test provides critical diagnostic clarity for metabolic disorders suspected by clinical geneticists, neurologists, and primary care physicians.

Parameter Our Test (AMACR NGS) Closest Alternative (Sanger Sequencing Panel)
Precision >99.9% analytical sensitivity & specificity ~98% (targeted regions only)
Methodology Full gene NGS with deletion/duplication analysis Sequential single‑exon Sanger sequencing
Turnaround Time 3–4 Weeks 6–8 Weeks
Sample Type Blood, Extracted DNA, or FTA Card Blood only

Physician Insight & Safety Protocols

“As a DHA‑licensed Consultant Medical Genetics (License No. 9294403), I emphasize that the AMACR gene test must be interpreted within the full clinical context – including family pedigree, metabolic biomarkers, and neurological examination. A negative sequencing result does not rule out all peroxisomal disorders. Always correlate with biochemical findings and never adjust therapy without a specialist consultation.”

— Lina Osama Zaki Quteineh, Consultant Medical Genetics

Advisory: Medication Management

Do not alter or stop any prescribed treatment solely based on genetic findings. Test results are one component of a comprehensive clinical evaluation. All therapeutic decisions require direct supervision by your treating physician.

Exclusion Criteria & Emergency Red Flags

  • Exclusion: Patient unable to provide informed consent or lacking a clinical indication for peroxisomal disorder evaluation.
  • Exclusion: Severe coagulopathy making blood draw unsafe.
  • Red Flag: Sudden onset of severe neuropathy, seizures, or acute hepatic decompensation — seek immediate emergency care.

Patient FAQ & Clinical Guidance

1. What is the AMACR gene test?

The AMACR gene test detects pathogenic variants in the alpha‑methylacyl‑CoA racemase gene, which cause a rare peroxisomal disorder. This condition leads to adult‑onset neuropathy and bile acid synthesis defects. The test helps guide targeted management and carrier screening for family members.

2. How is this test performed?

This uses Next‑Generation Sequencing on blood, extracted DNA, or FTA cards to sequence the entire AMACR gene. A simple blood draw or finger‑prick sample is collected at home or clinic via our VIP Mobile Phlebotomy service, then transported under cold chain to our ISO‑certified laboratory for analysis.

3. When will I receive results and what should I discuss with my doctor?

Results are available in 3–4 weeks and include comprehensive interpretation of pathogenic, likely pathogenic, and variants of uncertain significance. Discuss results with a clinical geneticist to understand implications for treatment, dietary management (e.g., bile acid supplementation), and family planning.

UAE Regulatory & Data Privacy Adherence

Data Protection Compliance: This genetic testing service adheres to 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 follow Federal Decree‑Law No. 4 of 2016 on Medical Liability. All processes are ISO 9001:2015 certified and approved by DHA and MOHAP.

Medical Disclaimer: This content is for informational purposes only and does not constitute medical advice. Always consult a licensed physician for diagnosis and treatment.

Clinical & Logistical Metadata

Test Name AMACR Gene Sequencing (Alpha‑Methylacyl‑CoA Racemase Deficiency)
Price (AED) 2,800 AED
Turnaround Time 3 – 4 Weeks
Sample Type / Matrix Blood (2‑5 ml EDTA), Extracted DNA (1‑2 µg), or FTA Card
Methodology Used Next‑Generation Sequencing (NGS) with deletion/duplication analysis
ICD‑10‑CM Code E71.6
LOINC Code 94293-0
DHA Facility License & Laboratory Address License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. Corporate Lab: DNA Labs UAE

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