Test Price
3,500 AED✅ Home Collection Available
Leber’s Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test in UAE | 3,500 AED | DHA Licensed
Executive Summary & Core Metrics
Clinical Excellence Guarantee & Direct Patient Support
- 99.9% Diagnostic Sensitivity – ISO 9001:2015 Accredited Processing (Cert. INT/EGQ/2509DA/3139).
- Hospital-Grade Home Collection – ISO Certified Cold-Chain Transport, VIP Mobile Phlebotomy (8 AM – 11 PM).
- Post-Test Clinical Guidance – Telephonic result interpretation by DHA-licensed genetics specialists.
- Insurance Direct Billing Verification – WhatsApp +971 54 548 8731 (instant pre-approval).
Test Overview & Methodology
The LHON mitochondrial mutation detection test screens for pathogenic point mutations in mitochondrial DNA (mtDNA) associated with Leber’s hereditary optic neuropathy — a maternally inherited condition causing acute or subacute bilateral vision loss. By analyzing the three primary mutations (m.3460G>A, m.11778G>A, m.14484T>C) via polymerase chain reaction (PCR) and Sanger sequencing, this test confirms the molecular diagnosis with 99.9% sensitivity, enabling early surveillance and informed reproductive planning.
| Feature | Our LHON Mutation Test | Whole Mitochondrial Genome Sequencing |
|---|---|---|
| Diagnostic Precision | Targeted analysis of 3 common LHON mutations | Broad mtDNA analysis, may include variants of uncertain significance |
| Methodology | PCR + Sanger sequencing (gold standard for single nucleotide variant confirmation) | Next-generation sequencing, requires further validation for clinical reporting |
| Turnaround Time | 4 weeks | 8–12 weeks |
| Clinical Utility | High – directly answers diagnostic question for LHON | Moderate – may incidentally identify non-LHON mitochondrial disorders |
Physician Insight & Safety Protocols
“A confirmed LHON mutation provides a definitive molecular answer, which is invaluable for patients and their families. However, a negative result does not exclude all mitochondrial optic neuropathies, and clinical correlation with neuro-ophthalmological examination remains paramount. Genetic counseling is strongly recommended to address maternal inheritance patterns and familial risk assessment.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Medication Advisory Notice
Medication Safety Warning
Do not stop or alter any prescribed treatment based on these results without physician consultation. Abrupt cessation of medication (e.g., idebenone) can be harmful.
Exclusion Criteria for Home Collection
Exclusion Criteria for Home Phlebotomy
- Age below 18 years – requires legal guardian consent and presence during collection.
- Severe haemodynamic instability or acute visual loss with red flags (sudden complete blindness, severe headache, loss of consciousness) – proceed directly to Emergency Department.
- Inability to provide 4 mL whole blood in a temperature-controlled environment.
ER Red Flags – Seek Emergency Care If:
- Sudden, painless, profound vision loss in both eyes within hours.
- Severe headache with visual changes and neck stiffness.
- Loss of consciousness, confusion, or difficulty speaking.
Patient FAQ & Clinical Guidance
1. What does the LHON mitochondrial mutation detection test detect?
This test identifies three primary pathogenic mitochondrial DNA point mutations — m.3460G>A, m.11778G>A, and m.14484T>C — that cause Leber’s hereditary optic neuropathy. Detection of any of these mutations confirms the molecular diagnosis with greater than 99.9% sensitivity, allowing families to understand inheritance patterns and initiate appropriate surveillance or therapy.
2. How should I prepare for the LHON mutation blood test?
No fasting or special preparation is required; the phlebotomist will draw 4 mL of blood into a lavender-top EDTA tube, which must be kept refrigerated — never frozen. You must complete the mandatory Genomics Clinical Information Requisition Form (Form 20) before collection. The specimen is transported via validated cold chain to maintain integrity.
3. What do the results of the LHON test mean for my family?
A positive result confirms a mitochondrial DNA mutation is the cause of LHON, indicating maternal inheritance — meaning all first-degree maternal relatives are at risk. Genetic counseling is recommended to discuss implications for future generations and prenatal options. A negative result, however, does not exclude other forms of hereditary optic atrophy, and further neurological evaluation may be needed.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Compliance Framework
All genomic and clinical data are handled in strict accordance 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. Patient consent and clinical safety protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA) and adheres to all applicable data security and confidentiality standards.
Laboratory operations maintain ISO 9001:2015 certification (Cert. INT/EGQ/2509DA/3139), ensuring rigorous quality management across all testing processes.
Clinical & Logistical Metadata
| Test Name | Leber’s Hereditary Optic Neuropathy (LHON) Mitochondrial Mutation Detection Test |
| Price (AED) | 3,500 |
| Turnaround Time | 4 weeks |
| Sample Type / Matrix | Whole blood (4 mL EDTA, lavender-top tube) |
| Methodology Used | PCR + Sanger Sequencing |
| ICD-10-CM Code | H47.22 |
| LOINC Code | 94087-3 |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | DNA Labs UAE | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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