Test Price
2,800 AED✅ Home Collection Available
OXCT1 Gene (Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency) Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited processing and next-generation sequencing.
- 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 a DHA-licensed genetics specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This advanced NGS panel analyses the OXCT1 gene for pathogenic variants causing Succinyl-CoA:3-Oxoacid CoA Transferase (SCOT) deficiency, a rare autosomal recessive metabolic disorder. UAE residents benefit from definitive molecular diagnosis in 3–4 weeks, allowing precise clinical management and family planning.
| Feature | NGS Panel (Our Test) | Enzyme Assay (Alternative) |
|---|---|---|
| Precision | 99.9% sensitivity for single‑nucleotide variants & copy number changes | Variable (60–85%) – affected by sample stability |
| Methodology | Next‑Generation Sequencing (Illumina® platform, LC‑MS/MS validated interpretation) | Spectrophotometric enzyme activity in fibroblasts |
| Turnaround Time | 3–4 Weeks | 6–10 Weeks (requires cell culture) |
Physician Insight & Safety Protocols
"SCOT deficiency is a challenging diagnosis that requires both molecular confirmation and careful metabolic correlation. As a consultant medical geneticist, I emphasize that genomic results must always be interpreted alongside clinical presentation, biochemical markers, and family history. Early diagnosis through targeted NGS analysis opens the door to preventive dietary management and regular metabolic monitoring, which significantly reduces the risk of acute ketoacidotic episodes."
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory: Medication Stability & Clinical Safety
Maintain current medication regimen unless directed otherwise by your treating physician. Abrupt discontinuation of prescribed therapies may precipitate metabolic instability in individuals with suspected SCOT deficiency.
Exclusion Criteria & Emergency Indicators
- Exclusion: Do not perform elective blood draw during acute metabolic crisis (severe acidosis, hyperammonemia). Stabilize the patient before any specimen collection. Testing during active infection or prolonged fasting should proceed only under direct clinical supervision.
- Emergency Red Flags: If vomiting, lethargy, tachypnea, or altered consciousness develops after sample collection, seek immediate care at a DHA-licensed hospital. This molecular test does not replace the need for urgent metabolic intervention during decompensation.
Patient FAQ & Clinical Guidance
1. What is the OXCT1 gene test and why is it performed?
The OXCT1 gene test detects inherited pathogenic variants that cause Succinyl-CoA:3-Oxoacid CoA Transferase (SCOT) deficiency, a rare autosomal recessive disorder impairing ketone body utilization. This leads to recurrent, potentially life-threatening ketoacidotic episodes. Definitive molecular diagnosis enables targeted dietary management, metabolic monitoring, and informed family planning.
2. Who should consider this genetic test in the UAE?
Infants, children, or adults presenting with recurrent unexplained ketoacidosis, individuals with a family history of SCOT deficiency, and those from consanguineous backgrounds — particularly of Emirati or South Asian heritage — are strong candidates for this NGS panel. Pre-test genetic counseling to document pedigree is mandatory before proceeding with molecular analysis.
3. How is the sample collected and what preparation is required?
A blood sample (whole blood, extracted DNA, or a single spot on an FTA card) is collected at home by a DHA-licensed phlebotomist via VIP Mobile Phlebotomy with temperature-controlled cold-chain transport. A mandatory pre-test genetic counseling session is required to document family history and confirm test appropriateness. Sample collection is available daily from 8 AM to 11 PM.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance Framework
All patient data is processed exclusively within UAE-sovereign servers under the provisions of 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 comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE operates under DHA Facility License Number 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | OXCT1 Gene (Succinyl-CoA:3-Oxoacid CoA Transferase Deficiency) Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card blood spot. VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® platform with LC-MS/MS validated interpretation |
| ICD-10-CM Code | E88.8, Z13.228, Z15.89 |
| LOINC Code | 79474-8 |
| DHA Facility License & Laboratory Address | License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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