Test Price
2,800 AED✅ Home Collection Available
PC Gene Leigh Syndrome Genetic Test (Pyruvate Carboxylase Deficiency) in UAE | 2,800 AED | DHA-Aligned Molecular Diagnostics
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-Accredited Processing.
- Premium Logistics: Paid Hospital-Grade Home Collection via ISO Certified Cold-Chain Transport & VIP Mobile Phlebotomy (8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Interpretation by DHA-licensed Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This Next-Generation Sequencing (NGS) test analyzes the PC gene for pathogenic variants causing Leigh syndrome due to pyruvate carboxylase deficiency, a severe neurometabolic disorder. It provides a definitive molecular diagnosis for accurate clinical management, genetic counselling, and family screening. The methodology uses whole-exome capture with targeted bioinformatics analysis, achieving 99.9% sensitivity for all clinically relevant variants in the PC gene.
| Feature | Our Test – DHA-Aligned | Closest Alternative (Sanger/Exome) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity, full gene coverage | ~95% sensitivity, limited to coding regions |
| Methodology | NGS + bioinformatics (DHA/MOHAP standard) | Sanger sequencing or research-based panel |
| Turnaround Time | 3–4 weeks | 6–8 weeks |
| Compliance | Full UAE PDPL, Federal Law No. 2 of 2019 on ICT in Health | Variable, may lack local regulatory alignment |
Physician Insight & Safety Protocols
“As a DHA-licensed Consultant Medical Genetics, I emphasize that this genetic test provides critical molecular evidence for diagnosing pyruvate carboxylase deficiency. However, results must always be interpreted alongside a complete neurological and metabolic work‑up. No single test alone dictates a diagnosis; multidisciplinary evaluation remains the cornerstone of care.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Clinical Safety Advisory
⚠️ Do not discontinue any prescribed medication or modify treatment based solely on this test result. All therapeutic decisions must be made in consultation with your treating neurologist or geneticist. A mandatory pre-test genetic counselling session is required to draw a pedigree chart and discuss clinical history of the patient and affected family members. No fasting is required; maintain all regular medications unless otherwise directed by your physician. Sample collection is performed via venipuncture (whole blood) with informed consent documented as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
Exclusion Criteria & Emergency Red Flags
- Exclusion Criteria: Known somatic mosaicism in the tested tissue, recent blood transfusion (<2 weeks) if whole blood is used.
- ER Red Flags: Sudden loss of developmental milestones, acute metabolic decompensation (vomiting, lethargy, seizures), or severe hypotonia – seek emergency care immediately.
Patient FAQ & Clinical Guidance
1. How accurate is the NGS test for PC‑gene‑related Leigh syndrome?
The test delivers 99.9% diagnostic sensitivity for known pathogenic variants in the PC gene using ISO-accredited protocols. False negatives are extremely rare, but a negative result does not fully exclude all possible genetic causes of Leigh syndrome; further metabolic testing may be advised.
2. Is home sample collection available and legally compliant in the UAE?
Yes, our VIP mobile phlebotomy service offers hospital-grade home collection across all emirates, fully compliant with UAE PDPL and Federal Law No. 2 of 2019. All samples are transported in validated cold‑chain containers, and consent is documented digitally as mandated by Federal Decree-Law No. 4 of 2016 for medical liability purposes.
3. How long does it take to receive the results, and who will explain them?
Results are typically available within 3 to 4 weeks from sample receipt, delivered directly to your supervising DHA‑licensed physician for interpretation. A complimentary tele‑counselling session with a clinical geneticist is included to discuss findings and next steps.
UAE Regulatory & Data Privacy Adherence
This genetic testing service fully complies with the following UAE federal laws and standards:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) – ensuring secure handling of genetic data.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields – governing telemedicine and electronic health records.
- Federal Decree-Law No. 4 of 2016 on Medical Liability – regulating patient consent and clinical safety.
Our laboratory operates under DHA Facility License No. 1143 and maintains ISO 9001:2015 certification (Cert. INT/EGQ/2509DA/3139) for quality management. Processing is performed in a DHA/MOHAP-compliant network.
Clinical & Logistical Metadata
| Test Name | PC Gene Leigh Syndrome Genetic Test (Pyruvate Carboxylase Deficiency) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole blood (EDTA), DNA FTA card, or extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) with targeted bioinformatics |
| ICD-10-CM Code | G31.83 (Leigh syndrome) |
| LOINC Code | 93683-6 (PC gene full sequencing) |
| DHA Facility License & Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
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