Test Price
2,800 AED✅ Home Collection Available
AMACR Gene Sequencing (Alpha-Methylacyl-CoA Racemase Deficiency) in UAE | 2800 AED | 2026 DHA Guidelines
تحليل تضاعف جين AMACR (نقص إنزيم ألفا-ميثيل أسيل-كو أ راسيميز) في الإمارات | ٢٨٠٠ درهم | معتمد من هيئة الصحة بدبي
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Home Collection and VIP Mobile Phlebotomy.
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
يضمن هذا الفحص دقة تشخيصية بنسبة 99.9% بفضل تقنيات متطورة ومعتمدة من هيئة الصحة بدبي.
Overview
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.
تحليل تضاعف جين AMACR هو اختبار جيني متقدم يكشف الطفرات المسببة لاضطراب نقص إنزيم ألفا-ميثيل أسيل-كو أ راسيميز، مما يساعد في تشخيص الأمراض الاستقلابية بدقة عالية.
| 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 |
Clinical Insight from Dr. Prabhakar Reddy
“As a DHA-licensed practitioner (License No. 61713011), I stress that this AMACR gene test must be interpreted alongside full clinical phenotype, family history, and metabolic biomarkers. A negative result does not exclude all metabolic disorders. Always correlate with biochemical findings and never alter treatment without specialist consultation.”
— Dr. Prabhakar Reddy, Clinical Genetics & Metabolic Specialist
⚠ Critical Medication Warning
Do not discontinue or modify any prescribed medication without direct authorization from your supervising physician. Genetic test results are not a substitute for clinical judgment.
🚨 Exclusion Criteria & Emergency Red Flags
- Exclusion: Patient unable to provide informed consent or lacking a clinical indication for peroxisomal disorders.
- Exclusion: Severe coagulopathy making blood draw unsafe.
- Red Flag: Sudden onset of severe neuropathy, seizures, or acute hepatic decompensation — seek immediate emergency care.
Pre-Test Requirements
A genetic counselling session is mandatory to draw a detailed pedigree chart of family members affected with Alpha-methylacyl-CoA racemase deficiency. Avoid certain supplements or medications as directed by your clinician prior to sample collection. Please provide full clinical history including neurological symptoms and metabolic crises.
Sample Logistics: Blood (2–5 ml in EDTA), Extracted DNA (1–2 µg), or one drop of blood on FTA card. Cold chain transport ensures stability.
Frequently Asked Questions
Q: What is the AMACR gene test?
The AMACR gene test detects pathogenic variants causing alpha-methylacyl-CoA racemase deficiency, a rare peroxisomal disorder. This includes adult-onset neuropathy and bile acid synthesis defects. Results guide targeted management and family screening.
س: ما هو اختبار جين AMACR؟
يكشف اختبار جين AMACR عن الطفرات المسببة لنقص إنزيم ألفا-ميثيل أسيل-كو أ راسيميز، وهو اضطراب استقلابي نادر يؤدي إلى اعتلال الأعصاب الحركية الحسية واضطرابات تصنيع الأحماض الصفراوية. تُوجه النتائج العلاج الفردي والفحص العائلي.
Q: How is this test performed?
This uses Next-Generation Sequencing on blood, DNA, or FTA cards to sequence the entire AMACR gene. A simple blood draw or finger-prick sample is collected at home or clinic, then shipped to our ISO-certified laboratory for analysis.
س: كيف يتم إجراء هذا الاختبار؟
يُستخدم تقنية التضاعف الجيني (NGS) على عينة دم أو حمض نووي أو بطاقة FTA لفحص كامل جين AMACR. تُجمع العينة بسهولة عبر سحب دم بسيط أو وخز إصبع في المنزل أو العيادة، ثم تُرسل إلى مختبرنا المعتمد دولياً.
Q: 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.
س: متى ستظهر النتائج وماذا يجب أن أناقش مع طبيبي؟
تتوفر النتائج خلال 3 إلى 4 أسابيع وتشمل تفسيراً شاملاً للطفرات الممرضة والمحتملة والغير محددة الأهمية. ناقش النتائج مع مستشار وراثي لفهم تأثيرها على العلاج والنظام الغذائي (مثل مكملات الأحماض الصفراوية) وتخطيط الأسرة.
Regulatory Compliance: This service adheres to Federal Decree-Law No. 41 of 2024 (Art. 87), CDS Law 2026 (Minors), UAE PDPL, and ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). Laboratory Facility License: 9834453. All genetic testing conducted under DHA/MOHAP approved protocols.
Medical Disclaimer: This content is for informational purposes only and does not constitute medical advice. Always consult a licensed physician for diagnosis and treatment.
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