Test Price
2,800 AED✅ Home Collection Available
RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Genetic Test
Executive Summary & Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited Processing (Cert: INT/EGQ/2509DA/3139).
- 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 for result interpretation by a specialist genetic consultant.
- Insurance: Direct Billing Verification via WhatsApp at +971 54 548 8731.
Test Overview & Methodology
The RNASEH1 gene NGS test definitively diagnoses autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions type 2 (PEOA2) by analysing the entire coding region and exon-intron boundaries via next-generation sequencing. It serves patients with unexplained ptosis, ophthalmoparesis, and suspected mitochondrial myopathy, delivering a comprehensive genetic report within 3–4 weeks.
| Feature | Our UAE Premium NGS Test | Closest Alternative (Basic NGS Panel) |
|---|---|---|
| Gene Coverage | Complete RNASEH1 gene (all exons, splice sites, CNV analysis) | Partial mitochondrial panel; RNASEH1 may be omitted or not fully covered |
| Methodology | NGS with Sanger confirmation & MLPA for large deletions | NGS only, limited validation |
| Diagnostic Sensitivity | 99.9% | ~85–90% (many variants missed) |
| Turnaround Time | 3–4 weeks | 4–8 weeks |
| UAE Regulatory Compliance | ✅ Full compliance with DHA and MOHAP standards | ⚠ May not meet UAE regulatory standards |
Physician Insight & Safety Protocols
“While genetic testing for RNASEH1 is a cornerstone for confirming PEOA2, it must be interpreted together with thorough neurological and ophthalmological clinical findings. A negative result does not exclude other mitochondrial cytopathies, and a positive variant requires careful correlation with family history and dedicated genetic counselling. I encourage patients to view this test as a piece of a larger diagnostic puzzle.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA License: 9294403)
⚠ Important Advisory
Do not discontinue prescribed medication without consulting your doctor. If you experience sudden double vision, rapidly worsening ptosis, shortness of breath, dysphagia, or palpitations, seek immediate medical attention as these may indicate acute neuromuscular compromise.
Exclusion Criteria
Patients should not proceed with blood draw if they have: acute febrile illness, active systemic infection, blood transfusion within the last 2 weeks, inability to provide informed consent, or age <18 years without a legal guardian (in compliance with Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE PDPL).
Patient FAQ & Clinical Guidance
1. What exactly does the RNASEH1 gene test diagnose?
A: The RNASEH1 gene test identifies pathogenic mutations responsible for autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions type 2, confirming a precise molecular diagnosis. This genetic diagnosis helps tailor neurological and ophthalmological management, informs prognosis, and enables cascade testing of at-risk family members.
2. How is the sample collected and is there an age limit for testing?
A: A standard whole blood sample is collected by our VIP Mobile Phlebotomy team at your home using ISO-certified cold-chain procedures. Testing is available for patients of all ages with proper consent. For minors under 18, a legal guardian must provide written consent in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability and UAE PDPL. The sample is transported under controlled temperature and analysed through NGS within 3–4 weeks.
3. Will my insurance cover this 2,800 AED genetic test in the UAE?
A: Many UAE insurers reimburse the RNASEH1 test when preauthorised. Our direct billing verification via WhatsApp at +971 54 548 8731 instantly confirms your coverage. Please have your Emirates ID and insurance card ready. If self-paying, the fee is 2,800 AED, inclusive of home collection, genetic counselling, and post-test telephonic guidance.
UAE Regulatory & Data Privacy Adherence
UAE Regulatory & Data Privacy Adherence
This genetic testing service operates in full compliance 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 data is processed securely, and informed consent is obtained in accordance with Federal Decree-Law No. 4 of 2016 on Medical Liability. The facility is licensed by the Dubai Health Authority (DHA License No. 1143) and operates from Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE.
Clinical & Logistical Metadata
| Test Name | RNASEH1 Gene Progressive External Ophthalmoplegia with Mitochondrial Deletions Type 2 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks |
| Sample Type / Matrix | Whole Blood |
| Methodology Used | NGS with Sanger confirmation & MLPA for large deletions |
| ICD-10-CM Code | G31.81 |
| LOINC Code | 93569-1 |
| DHA Facility License & Laboratory Address | DHA License: 1143 | DNA Labs UAE, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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All reports reviewed by DHA-Certified physicians