Test Price
2,800 AED✅ Home Collection Available
ACAT1 Gene Methylacetoacetic Aciduria Genetic Test in UAE | 2800 AED | DHA Licensed Facility
Executive Summary & Core Metrics
- Diagnostic Sensitivity: 99.9% for single-nucleotide variants; 95% for copy-number variants (≥2 exons) via next-generation sequencing of the entire ACAT1 coding region.
- Accreditation: ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139) and operated under DHA Facility License No. 1143.
- Logistics: VIP mobile phlebotomy with temperature-controlled cold-chain home collection, available daily 8 AM – 11 PM.
- Post-Test Support: Telephone genetic counselling session included to guide result interpretation and clinical management.
- Insurance: Direct coverage verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) test analyzes the entire coding region of the ACAT1 gene to identify pathogenic variants responsible for methylacetoacetic aciduria (beta‑ketothiolase deficiency), a rare autosomal recessive disorder of ketone body metabolism. Early molecular diagnosis enables precise metabolic management, dietary intervention, and genetic counselling to prevent life‑threatening metabolic crises.
| Feature | Our Test (NGS – Full Gene Sequencing) | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Precision & Coverage | ✅ Detects all variant types (SNVs, indels, CNVs) across all coding exons ±10 bp splice sites | ❌ Limited to known hotspots; may miss deep intronic or large rearrangements |
| Analytical Sensitivity | 99.9% for single‑nt variants; 95% for CNVs (≥2 exons) | ~99.0% for targeted amplicons; no CNV detection |
| Turnaround Time | 3 to 4 Weeks | 4 to 6 Weeks |
| ISO Accreditation | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) & DHA‑Licensed Facility #1143 | Variable; often not accredited locally |
Physician Insight & Safety Protocols
“This genetic test provides high-resolution data, yet its clinical utility depends on correlation with the patient’s metabolic profile, episodic history, and family pedigree. Any pathogenic or uncertain finding must be reviewed by a metabolic specialist before altering treatment or diet.” – Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
⚠️ Advisory: Medication & Dietary Regimen Continuity
Do not stop, start, or modify any prescribed medication or dietary plan solely based on genetic test results. Abrupt changes in the absence of clinical correlation can trigger a severe metabolic crisis. Always consult your managing physician before making any therapeutic adjustments.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Acute metabolic decompensation requiring urgent hospital admission; blood transfusion received within the past 4 weeks (may interfere with germline DNA analysis).
- Red Flags — Seek Immediate Emergency Care: Persistent vomiting, unexplained lethargy, deep rapid breathing (Kussmaul pattern), seizures, or loss of consciousness. These signs indicate a metabolic emergency that can progress to coma without prompt intervention.
Patient FAQ & Clinical Guidance
1. What does the ACAT1 gene test detect?
The test identifies disease-causing variants in the ACAT1 gene that cause methylacetoacetic aciduria, a disorder impairing ketone body breakdown during fasting or illness. Early detection enables proactive dietary and medical management to prevent metabolic crises.
2. Who should consider this test?
Individuals with unexplained episodes of metabolic acidosis, ketosis, vomiting, or lethargy—particularly after fasting or intercurrent illness—as well as siblings of affected children and parents interested in carrier screening.
3. How is the sample collected and what is the cost?
A peripheral blood sample (2–3 mL in an EDTA tube) is collected through our VIP mobile phlebotomy service, available daily from 8 AM to 11 PM. The test fee is 2,800 AED, and direct insurance billing verification is provided via WhatsApp at +971 54 548 8731.
UAE Regulatory & Data Privacy Adherence
- Data Protection: All genetic and personal data are encrypted and processed in full 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 & Consent: Sample collection and molecular analysis follow the provisions of Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring informed patient consent and clinical accountability.
- Facility: DHA Licensed Facility No. 1143 | ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139) | Laboratory operated by DNA Labs UAE.
Clinical & Logistical Metadata
| Test Name | ACAT1 Gene Methylacetoacetic Aciduria Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coding Region ±10 bp splice sites |
| ICD-10-CM Code | E71.1 |
| LOINC Code | 101401-4 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians