Test Price
2,800 AED✅ Home Collection Available
ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
The ACAD9 gene next-generation sequencing test delivers definitive molecular diagnosis for Leigh syndrome and mitochondrial encephalopathy, guided by Consultant Medical Genetics oversight and DHA-regulated protocols. This test empowers clinicians with actionable genetic insights for tailored therapy and family counselling.
- Accuracy Guarantee: 99.9% diagnostic sensitivity via ISO-accredited NGS processing with CNV calling.
- Premium Logistics: VIP Mobile Phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Clinical Guidance: Post-test telephonic consultation for result interpretation and genetic counselling.
- Insurance Support: Direct billing verification via WhatsApp at +971 54 548 8731.
- Price: 2800 AED inclusive of all laboratory and logistics fees.
Test Overview & Methodology
The ACAD9 gene NGS test is a high-resolution genetic analysis designed to detect pathogenic variants causing Leigh syndrome and mitochondrial encephalopathy. This test empowers neurologists, paediatricians, and neonatologists with definitive molecular diagnosis, guiding therapy, family planning, and prognostic assessments. The methodology employs next-generation sequencing with full coding region and splice-site coverage, including copy number variation (CNV) detection.
| Feature | Our Test (ACAD9 NGS) | Closest Alternative (Single‑Gene Sanger) |
|---|---|---|
| Precision | >99.9% sensitivity for coding and splice regions | ~95% sensitivity; misses deep intronic variants |
| Method | Next Generation Sequencing (NGS) with CNV calling | Sanger sequencing; no copy number analysis |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Price | 2800 AED | ~3500 AED |
Physician Insight & Safety Protocols
"As a Consultant Medical Genetics specialising in mitochondrial disorders, I consider the ACAD9 NGS test indispensable when Leigh syndrome is clinically suspected. A definitive molecular diagnosis enables targeted metabolic therapy, accurate recurrence risk counselling, and informed reproductive planning. However, a negative result does not exclude all mitochondrial diseases; clinical correlation with neuroimaging, metabolic profiling, and biochemical assays remains paramount. Families must receive pre- and post-test genetic counselling to fully understand the implications of a pathogenic variant."
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Important Medication Advisory
⚠️ Do not discontinue prescribed medication without consulting your doctor.
Abrupt cessation of anti-epileptic or metabolic therapies may precipitate clinical deterioration. Always seek specialist guidance before making any changes to your treatment regimen.
Exclusion Criteria & Emergency Red Flags
- Not suitable for patients with acute febrile illness, active infection, or decompensated metabolic crisis.
- Blood draw contraindicated in severe coagulopathy or platelet count < 50,000/μL without haematology clearance.
- Emergency Red Flags: If the patient develops new onset seizures, stroke-like episodes, or rapid neurological deterioration before testing, seek immediate emergency care.
Patient FAQ & Clinical Guidance
1. What is the clinical benefit of the ACAD9 gene test?
The ACAD9 NGS test definitively confirms Leigh syndrome aetiology, enables tailored mitochondrial cocktail therapy, and informs reproductive risk through precise genetic counselling. Identifying a pathogenic variant allows for targeted metabolic management and accurate recurrence risk assessment for family planning.
2. How should I prepare for the test and what does the process involve?
Provide a detailed three‑generation family pedigree and complete clinical history during the pre-test genetic counselling session. A 5 ml EDTA whole blood sample is collected at your home via VIP mobile phlebotomy under strict temperature-controlled cold-chain logistics. Results are delivered within 3–4 weeks, followed by a telephonic consultation to explain the findings and their implications.
3. Is the test covered by insurance in the UAE?
Most UAE insurers reimburse this test when supported by a neurologist or geneticist referral. Our team handles direct billing verification via WhatsApp at +971 54 548 8731. We recommend confirming your outpatient genetic testing benefit with your insurer before scheduling the collection.
4. What does a positive or negative result mean for my family?
A positive result confirms a pathogenic ACAD9 variant, enabling cascade testing for at-risk relatives and informing reproductive options such as preimplantation genetic testing. A negative result reduces the likelihood of ACAD9-related disease but does not exclude all mitochondrial disorders; further metabolic and genetic workup may be indicated based on clinical suspicion.
UAE Regulatory & Data Privacy Adherence
Your data is protected under UAE law. DNA Labs UAE strictly 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. All genetic information is encrypted, access-controlled, and processed solely for diagnostic purposes with your explicit written consent. Clinical safety and patient consent protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. Our laboratory holds DHA facility license No. 1143 and is ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring the highest standards of quality and confidentiality.
Clinical & Logistical Metadata
| Test Name | ACAD9 Gene Leigh Syndrome and Mitochondrial Encephalopathy Genetic Test (NGS) |
| Price (AED) | 2800 AED |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (EDTA) – VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM |
| Methodology Used | Next Generation Sequencing (NGS) with full coding region, splice-site coverage, and CNV calling |
| ICD-10-CM Code | G31.82 (Leigh syndrome), E88.49 (Mitochondrial encephalopathy) |
| LOINC Code | 81315-5 (ACAD9 gene full sequencing) |
| 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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