Test Price
2,800 AED✅ Home Collection Available
ACACA Gene Acetyl-CoA Carboxylase Deficiency Genetic Test in UAE | 2800 AED | NGS Sequencing
Executive Summary & Core Metrics
Test Overview & Methodology
The ACACA Gene NGS Test identifies pathogenic variants in the ACACA gene responsible for Acetyl-CoA Carboxylase Deficiency, an autosomal recessive disorder impairing fatty acid biosynthesis. Early molecular diagnosis enables targeted dietary intervention and metabolic monitoring to mitigate neurological and metabolic crises.
Comparative Diagnostic Performance
| Feature | Our ISO-Certified Test | Closest Alternative |
|---|---|---|
| Methodology | NGS full gene coverage with copy number analysis | Sanger sequencing limited to known hotspots |
| Analytical Sensitivity | 99.9% for SNVs and small indels | Approximately 95% depending on primer design |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Accreditation | ISO 9001:2015, DHA Licensed | May lack recognized regulatory certification |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I emphasize that this ACACA gene test provides crucial molecular evidence for diagnosing Acetyl-CoA Carboxylase Deficiency. A positive result must be correlated with the patient's biochemical profile and clinical presentation. This test does not replace urgent metabolic management; any changes to prescribed therapy should only be made under direct medical supervision.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medical Advisory & Patient Safety
⚠️ Medication Safety Advisory
Do not discontinue, adjust, or initiate any medication, supplement, or dietary therapy based solely on genetic test results without explicit instruction from your treating physician. This molecular test does not supersede acute clinical judgment or emergency metabolic care.
Exclusion Criteria & Emergency Indicators
Exclusion Criteria
- Patient or legal guardian unable or unwilling to provide informed consent; unconfirmed identity; hemolyzed or improperly collected specimen.
- Recent whole blood transfusion within 2 weeks may interfere with germline DNA analysis.
Seek Immediate Emergency Care If
- Sudden onset of vomiting, lethargy, severe hypoglycemia, seizures, or altered consciousness may indicate an acute metabolic crisis requiring urgent medical intervention regardless of test results.
Patient FAQ & Clinical Guidance
1. What does the ACACA gene test detect and why is it important?
The ACACA gene encodes acetyl-CoA carboxylase, the rate-limiting enzyme in fatty acid biosynthesis. Pathogenic variants cause Acetyl-CoA Carboxylase Deficiency, a rare inborn error of metabolism. A positive test confirms the diagnosis, enabling targeted dietary management with medium-chain triglycerides and other metabolic interventions to prevent life-threatening episodes.
2. How is the ACACA NGS test performed and what preparation is needed?
A qualified phlebotomist collects a peripheral blood sample during a scheduled home visit or at our facility. DNA is extracted and analyzed using next-generation sequencing covering the entire ACACA coding region and splice sites. No fasting is required, and a pre-test genetic counseling session is provided to discuss implications.
3. How soon will I receive my results and how are they interpreted?
Results are delivered within 3–4 weeks. The report includes variant pathogenicity classification per ACMG guidelines, zygosity status, and clinical recommendations. A telephonic consultation with our Consultant Medical Genetics specialist is scheduled to explain the findings, address family implications, and coordinate follow-up care.
UAE Regulatory & Data Privacy Adherence
Regulatory Compliance Framework
- Data Protection: All genetic data is processed and stored in strict compliance with Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL).
- Health Information Technology: Electronic health data management adheres to Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Clinical Safety & Consent: Patient safety and informed consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Accreditation: ISO 9001:2015 Quality Management System (Certificate: INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | ACACA Gene Acetyl-CoA Carboxylase Deficiency Genetic Test (NGS Full Gene Sequencing) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube); VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM |
| Methodology Used | Next-Generation Sequencing (NGS) with full gene coverage including coding exons and flanking splice regions; variant confirmation by Sanger sequencing if required |
| ICD-10-CM Code | E88.8 (Other specified metabolic disorders) |
| LOINC Code | 102361-9 (ACACA gene full sequencing analysis in Blood or Tissue by NGS) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab: DNA Labs UAE |
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