Test Price
2,800 AED✅ Home Collection Available
RNASEH2A Gene Sequencing for Aicardi-Goutières Syndrome Type 4
Executive Summary & Core Metrics
- ✓ Diagnostic Sensitivity: 99.9% analytical sensitivity via ISO 9001:2015 accredited NGS processing (Cert: INT/EGQ/2509DA/3139) for RNASEH2A full-gene coverage.
- ✓ Premium Logistics: VIP mobile phlebotomy and 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 expert genetic counsellors.
- ✓ Insurance Verification: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The RNASEH2A gene sequencing test detects pathogenic variants in the RNASEH2A gene, confirming Aicardi-Goutières Syndrome Type 4 (AGS4) with 99.9% analytical sensitivity. This DNA test using next-generation sequencing (NGS) is the gold standard for diagnosing this severe neuroinflammatory disorder in UAE patients. The full coding region and splice-site boundaries of RNASEH2A are interrogated for single-nucleotide variants, small insertions, and deletions.
| Feature | Our RNASEH2A NGS Test | Whole Exome Sequencing (WES) |
|---|---|---|
| Methodology | Targeted Gene NGS (Full Gene Coverage) | Whole Exome Sequencing (All Genes) |
| Analytical Sensitivity | >99.9% for RNASEH2A | ~95% for coding regions |
| Turnaround Time | 3 – 4 Weeks | 6 – 8 Weeks |
| Cost (AED) | 2,800 | 8,000+ |
Physician Insight & Safety Protocols
“As a consultant in medical genetics, I emphasize that a definitive diagnosis of Aicardi-Goutières Syndrome Type 4 requires both molecular confirmation via RNASEH2A gene sequencing and thorough clinical correlation with neuroimaging findings and interferon signature analysis. This targeted NGS approach provides families with the clarity needed for informed reproductive planning and early intervention strategies. Results should always be interpreted in the context of a comprehensive genetic counselling session.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notes
Medication & Clinical Caution
Do not discontinue prescribed medications without consulting your treating physician. Genetic test results are not a substitute for urgent clinical management. If the patient experiences sudden neurological deterioration such as seizures, loss of consciousness, or severe irritability with fever, seek emergency medical attention immediately.
Exclusion Criteria
- Not suitable for patients without a clinical suspicion of Aicardi-Goutières syndrome (e.g., isolated developmental delay without neurological signs) or those unwilling to provide informed consent.
- If the patient has an acute infection or is receiving immunosuppressive therapy, discuss with the ordering physician before sample collection.
Patient FAQ & Clinical Guidance
1. What is the RNASEH2A gene and Aicardi-Goutières Syndrome Type 4?
The RNASEH2A NGS test identifies disease-causing variants in the RNASEH2A gene, confirming Aicardi-Goutières syndrome type 4 diagnosis. This severe neuroinflammatory encephalopathy typically presents in infancy with irritability, seizures, developmental regression, and characteristic brain calcifications visible on CT or MRI. Early genetic confirmation enables timely supportive care and family counselling.
2. How is the test performed and what is the turnaround time?
A certified phlebotomist collects a single peripheral whole blood sample during a home visit between 8 AM and 11 PM, ensuring cold-chain transport to our ISO-accredited laboratory. The entire RNASEH2A gene is sequenced using next-generation technology, with results available within 3 to 4 weeks. A pre-test genetic counselling session is strongly recommended to document a family pedigree.
3. Does insurance cover this genetic test in the UAE?
Many UAE insurers cover medically necessary genetic testing for Aicardi-Goutières syndrome with prior approval. Our team handles direct billing verification with all major insurers and obtains prior authorization on your behalf. Please send your insurance details via WhatsApp to +971 54 548 8731 to confirm coverage before sample collection.
UAE Regulatory & Data Privacy Adherence
This diagnostic service operates in full compliance with UAE federal laws governing health data and patient privacy. All genetic data is processed and stored under the provisions of 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 procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. Your genomic information is encrypted, access-controlled, and never shared without explicit written consent.
Clinical & Logistical Metadata
| Test Name | RNASEH2A Gene Sequencing for Aicardi-Goutières Syndrome Type 4 |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood |
| Methodology Used | Next-Generation Sequencing (NGS), Full Gene Coverage |
| ICD-10-CM Code | G31.81 |
| LOINC Code | 81260-3 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | Corporate Lab Branding: DNA Labs UAE |
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
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All reports reviewed by DHA-Certified physicians