Test Price
2,800 AED✅ Home Collection Available
BCS1L Gene Leigh Syndrome Genetic Test in Dubai, UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Executive Summary
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 accredited NGS processing.
- 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, led by DHA-licensed Consultant Medical Genetics.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The BCS1L Gene Leigh Syndrome Genetic Test identifies pathogenic variants in the BCS1L gene associated with Leigh syndrome, a severe mitochondrial neurometabolic disorder. This next-generation sequencing test empowers neurologists, pediatricians, and medical geneticists in the UAE to confirm a diagnosis, guide treatment, and offer genetic counselling. Early detection through molecular analysis enables proactive clinical management and informed family planning.
| Feature | BCS1L NGS Test | Alternative Diagnostic Approach |
|---|---|---|
| Precision | 99.9% analytic sensitivity, detects all BCS1L variants | Low specificity; many metabolic neuroimaging mimics exist |
| Method | NGS with full gene coverage including intronic regions | Radiological findings only (basal ganglia lesions on MRI) |
| Turnaround | 3 to 4 weeks confirmation | May require invasive muscle biopsy and months of uncertainty |
Physician Insight & Safety Protocols
“A confirmed pathogenic variant in the BCS1L gene provides a definitive molecular diagnosis for Leigh syndrome, yet it must always be correlated with clinical presentation, family pedigree, and neuroimaging findings. This test delivers diagnostic clarity and empowers families with accurate recurrence risk information for future pregnancies. Results should be interpreted within the full context of mitochondrial disease evaluation.”
— Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403)
Clinical Advisory & Medication Safety
Medication Stability & Clinical Oversight
Do not alter or halt any prescribed therapy without direct consultation with the managing physician. This genetic test provides diagnostic and prognostic information and does not replace urgent clinical assessment or ongoing treatment monitoring. Patients on mitochondrial support supplements or anticonvulsant therapy must maintain adherence until formally advised otherwise.
Patient Exclusion Criteria & Emergency Red Flags
- Patient not accompanied by a legal guardian (for minors) — specimens will be rejected per UAE regulatory protocol.
- Incomplete clinical history or missing genetic counselling documentation.
- Emergency Red Flags: Acute metabolic decompensation with lethargy, persistent vomiting, lactic acidosis, or new-onset seizures requires immediate emergency department evaluation — do not wait for genetic test results.
Patient FAQ & Clinical Guidance
1. What is the BCS1L gene test and how does it diagnose Leigh syndrome?
This genetic test detects disease-causing mutations in the BCS1L gene using next-generation sequencing, confirming the molecular basis of Leigh syndrome — a progressive neurometabolic disorder affecting mitochondrial function.
2. What sample types are accepted and how is collection performed?
A standard peripheral whole blood sample, extracted DNA, or a dried blood spot on an FTA card is accepted. A certified phlebotomist will collect the sample during a scheduled home visit between 8 AM and 11 PM, with temperature-controlled cold-chain transport.
3. When will I receive the results and how are they explained?
You will receive a comprehensive molecular report within 3 to 4 weeks, followed by a telephonic post-test consultation with a DHA-licensed Consultant Medical Genetics specialist to interpret the clinical significance of the findings.
UAE Regulatory & Data Privacy Adherence
All genetic testing and data handling at DNA Labs UAE comply fully 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 and patient consent are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability. Patient genetic data is encrypted, access-controlled, and never shared without explicit written consent.
Clinical & Logistical Metadata
| Test Name | BCS1L Gene Leigh Syndrome Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole Blood, Extracted DNA, or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Full Gene Coverage |
| ICD-10-CM Code | G31.82 |
| LOINC Code | 88312-2 |
| DHA Facility License & Laboratory Address | DHA License No. 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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