Test Price
2,800 AEDโ Home Collection Available
SURF1 Gene Analysis (Leigh Syndrome, COX Deficiency) โ NGS Genetic Test in UAE
Executive Summary & Core Metrics
Why Choose Our SURF1 NGS Test for Leigh Syndrome Diagnosis
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO 15189:2012 accredited next-generation sequencing with Sanger confirmation.
- Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM across Dubai and all UAE emirates.
- Clinical Guidance: Post-test telephonic result interpretation and genetic counselling by DHA-licensed consultant medical geneticist.
- Insurance & Billing: Direct billing verification via WhatsApp +971 54 548 8731; cashless options available for most UAE health insurance networks.
Test Overview & Methodology
This SURF1 gene analysis employs clinical-grade next-generation sequencing (NGS) to detect pathogenic variants responsible for Leigh syndrome with cytochrome c oxidase (COX) deficiency. The assay provides complete coverage of all coding exons and flanking intronic regions of the SURF1 gene, enabling precise molecular diagnosis in suspected paediatric and adult mitochondrial disorder cases. All testing is performed under the rigorous quality standards of DNA Labs UAE, a DHA-licensed facility (License No. 1143) in Dubai Healthcare City.
| Feature | Our SURF1 Gene NGS Test | Closest Alternative โ Mitochondrial Panel NGS |
|---|---|---|
| Diagnostic Precision | Full gene sequencing with 100% coverage of SURF1 exons ยฑ flanking intronic regions; Sanger confirmation of all clinically significant variants | Multi-gene panel with lower depth for SURF1; may miss partial deletions or deep intronic variants |
| Methodology | Illumina NGS platform with orthogonal Sanger confirmation; validated for CNV detection | Targeted NGS panel without dedicated Sanger confirmation for each variant |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh โ Consultant Medical Genetics (DHA Registration ID: 9294403) advises: โLeigh syndrome due to COX deficiency represents one of the most challenging mitochondrial encephalopathies in paediatric neurology. Molecular confirmation through comprehensive SURF1 sequencing is indispensable for accurate prognosis, recurrence risk counselling, and family planning decisions. Results must always be interpreted alongside biochemical markers and neuroimaging findings. I deeply understand the emotional weight this diagnosis carries for familiesโgenetic counselling is not an adjunct but a cornerstone of the care pathway.โ
Advisory Notice โ Genetic Counselling Requirement
Pre-Test and Post-Test Genetic Counselling
All patients or their legal guardians must attend a mandatory genetic counselling session prior to sample collection. This session documents clinical history, constructs a three-generation pedigree, and establishes informed consent. A second counselling session following result disclosure is equally mandatory to explain variant significance, recurrence risks, and surveillance recommendations.
Important: Do not alter or discontinue any prescribed medication without first consulting your treating physician. Genetic test results complement clinical management and do not replace emergency medical care for acute neurological deterioration.
Safety Exclusion Criteria & Emergency Red Flags
Contraindications for Sample Collection
- Exclusion Criteria: Inability to provide informed consent by the patient or legally authorized guardian; minors presenting without both parental authorization and court approval as mandated by UAE Federal Law; active haemodynamic instability or acute febrile illness that may confound sample integrity.
- Emergency Red Flags โ Immediate Medical Attention Required: Acute neurological decompensation including loss of consciousness, new-onset refractory seizures, stroke-like episodes, unexplained respiratory distress, or severe metabolic acidosis. These features may signal rapid progression of the underlying mitochondrial disease and require urgent hospital-based evaluation rather than outpatient genetic testing.
Patient FAQ & Clinical Guidance
1. What is the turnaround time for SURF1 gene analysis results?
A: The standard turnaround time is 3 to 4 weeks from sample receipt at our Dubai Healthcare City laboratory. This duration accounts for DNA extraction, library preparation, NGS sequencing, bioinformatics analysis, Sanger confirmation of clinically significant variants, and multi-tiered clinical review by our consultant medical geneticist.
2. How should I prepare for the home collection appointment?
A: No special dietary preparation is required. Please bring a valid Emirates ID or passport, any prior neurological imaging reports, previous genetic testing records if applicable, and a complete list of current medications. Our phlebotomist will collect a peripheral blood sample using aseptic technique and transport it under continuous cold-chain monitoring to our laboratory.
3. Can this test detect all types of SURF1 gene mutations?
A: Our NGS assay detects single nucleotide variants, small insertions and deletions, and copy number variations across all nine coding exons and conserved splice-site regions. Detection sensitivity exceeds 99.9% for variants within the target region. Large structural rearrangements or deep intronic variants not captured by standard NGS may require complementary MLPA or whole-genome sequencing approaches, which our genetics team can advise upon if indicated.
4. Is genetic counselling included in the test price?
A: Yes. The test fee of 2,800 AED includes two mandatory genetic counselling sessions โ one conducted before sample collection and one following result issuance. These sessions are delivered by our DHA-licensed consultant medical geneticist, either in person at our Dubai Healthcare City facility or via secure telemedicine consultation, ensuring you fully understand the implications of your results.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates in full compliance with the UAE's highest standards for clinical data protection and genetic information governance. All patient data, including genetic test results, are processed under:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ Ensuring your genetic information is collected, stored, and shared only with your explicit consent and for the sole purpose of clinical diagnosis.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ Governing the secure transmission of electronic health records and telehealth consultations.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ Establishing the ethical framework for patient safety, informed consent, and clinical accountability throughout the diagnostic process.
Your genetic data remain confidential and are never shared with third parties without your written authorization. Results are released only to the ordering physician and the patient or legal guardian after identity verification.
Clinical & Logistical Metadata
| Test Name | SURF1 Gene Analysis (Leigh Syndrome, COX Deficiency) โ NGS Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3โ5 mL in EDTA tube); alternative buccal swab accepted for paediatric cases. Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection โ Available daily from 8 AM to 11 PM. |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina platform with orthogonal Sanger confirmation; validated CNV analysis via bioinformatic depth-of-coverage algorithms. |
| ICD-10-CM Code | G31.82 (Leigh syndrome) |
| LOINC Code | 101388-0 (SURF1 gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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