Test Price
2,800 AED✅ Home Collection Available
SLC25A20 Gene (Carnitine-Acylcarnitine Translocase Deficiency) Genetic Test in UAE | AED 2800 | DHA Licensed Laboratory
Executive Summary & Core Metrics
Diagnostic screening for the SLC25A20 gene to detect pathogenic variants causing carnitine-acylcarnitine translocase deficiency with 99.9% accuracy via Next‑Generation Sequencing (NGS), supported by ISO‑accredited processing, VIP mobile phlebotomy across the UAE, and post‑test clinical guidance from DHA‑licensed medical genetics professionals.
Test Overview & Methodology
The SLC25A20 gene sequencing test provides definitive molecular diagnosis for Carnitine‑Acylcarnitine Translocase (CACT) deficiency, a rare autosomal recessive fatty acid oxidation disorder. Using Next‑Generation Sequencing (NGS), the entire coding region of the SLC25A20 gene is analyzed to identify pathogenic variants, enabling early intervention, dietary management, and informed family planning.
| Feature | Our Test (NGS) | Closest Alternative (Sanger) |
|---|---|---|
| Methodology | Full‑gene Next‑Generation Sequencing (NGS) | Sanger sequencing of selected exons |
| Coverage | All exons, splice sites, and known deep intronic regions | Typically 2–3 common exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Pre‑test Counseling | Included (pedigree chart & risk assessment) | Often unavailable |
| Price | AED 2,800 | AED 3,200+ |
Physician Insight & Safety Protocols
“As a DHA‑licensed Consultant Medical Geneticist, I understand the emotional weight of pursuing a genetic diagnosis for a suspected metabolic disorder. This test can confirm a CACT deficiency at the molecular level, but it is essential to correlate the findings with newborn screening, acylcarnitine profile, and clinical symptoms. I urge every family to discuss the results with a metabolic specialist before making any changes to treatment or diet.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Advisory & Safety Guidance
⚠ Do not discontinue prescribed medication or dietary interventions without consulting your doctor.
- Emergency Red Flags: If the patient experiences acute lethargy, vomiting, hypoglycemia, hyperammonemia, or seizures, proceed to the nearest emergency department immediately — do not wait for test results.
- Medication Continuation: Maintain all current treatments and MCT oil supplementation until explicitly instructed otherwise by a metabolic specialist.
Exclusion Criteria & Consent Requirements
- Sample Restrictions: Samples collected in heparin tubes are rejected — use EDTA tubes only.
- Minor Consent: Legal guardian consent is required for all individuals under 18 years, in accordance with Federal Decree‑Law No. 4 of 2016 on Medical Liability.
- Informed Consent: Individuals unable to provide informed consent without a legal guardian are excluded from home collection and must arrange hospital‑based collection.
Patient FAQ & Clinical Guidance
1. What does a positive SLC25A20 test mean for my child's health?
A positive result confirms the presence of two pathogenic mutations in the SLC25A20 gene, establishing a diagnosis of carnitine‑acylcarnitine translocase deficiency, a condition that impairs the body’s ability to convert long‑chain fatty acids into energy. Immediate dietary management, including avoidance of fasting and supplementation with medium‑chain triglycerides (MCT oil), is critical to prevent metabolic crises.
2. Can this test be used for carrier screening in adults?
Yes, this NGS panel reliably identifies heterozygous carriers of SLC25A20 mutations, making it suitable for preconception or prenatal carrier screening in families with a known history of CACT deficiency. Genetic counseling is mandatory to interpret the reproductive risk for future pregnancies.
3. How is the sample collected and what is the turnaround time?
A VIP mobile phlebotomist collects 2–3 mL of whole blood in an EDTA tube or a few drops on an FTA card, which is transported in a temperature‑controlled cold chain to our ISO‑accredited lab. Results are delivered within 3 to 4 weeks via a secure electronic report.
4. Will my insurance cover the cost of this genetic test?
Many UAE insurance plans provide coverage for diagnostic genetic testing when ordered by a specialist. Send your insurance card via WhatsApp to +971 54 548 8731 for a direct billing verification within 30 minutes.
5. Is genetic counseling included with the test?
Yes, pre‑test and post‑test genetic counseling with a DHA‑licensed genetic counsellor is included in the price. A pedigree chart and risk assessment are provided prior to testing, and a detailed clinical interpretation of the sequencing report is delivered after results are available.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory Compliance: This 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. Genetic data is stored exclusively within UAE territory and is never shared without explicit written consent. Clinical testing and patient consent are governed under Federal Decree‑Law No. 4 of 2016 on Medical Liability. The laboratory operates under DHA Facility License No. 1143, certified ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139). All medical reporting is overseen by DHA‑licensed clinical geneticists.
Clinical & Logistical Metadata
| Test Name | SLC25A20 Gene (Carnitine‑Acylcarnitine Translocase Deficiency) Genetic Test – Full‑gene NGS Sequencing |
| Price (AED) | AED 2,800 |
| Turnaround Time | 3–4 Weeks (21–28 business days) |
| Sample Type / Matrix | Whole blood (EDTA tube) or FTA card; peripheral venipuncture |
| Methodology Used | Next‑Generation Sequencing (NGS) – Full‑gene sequencing with splice‑site coverage |
| ICD-10-CM Code | E71.1 (Other disorders of fatty‑acid oxidation) |
| LOINC Code | 98122-7 (SLC25A20 gene mutation analysis in Blood or Tissue by Molecular genetics method) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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