Test Price
2,800 AED✅ Home Collection Available
RNASEH2C Gene Aicardi‑Goutières Syndrome Type 3 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Clinical Excellence Guarantee — DNA Labs UAE
- ✓99.9% Analytical Sensitivity: ISO‑accredited Next‑Generation Sequencing (NGS) delivering full coding and flanking intronic region coverage for the RNASEH2C gene.
- ✓VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: DHA‑licensed phlebotomists available daily from 8 AM to 11 PM with hospital‑grade sample preservation.
- ✓Post‑Test Genetic Counseling: Complimentary telephonic consultation explaining variant classification and clinical implications.
- ✓Insurance and Billing Support: Direct assistance via WhatsApp +971 54 548 8731.
Pricing: 2,800 AED (includes comprehensive NGS analysis, reflex transcriptome option, and genetic counseling session).
Test Overview & Methodology
The RNASEH2C Gene Aicardi‑Goutières Syndrome Type 3 NGS Test is a definitive molecular diagnostic that identifies pathogenic variants in the RNASEH2C gene, confirming type 3 Aicardi‑Goutières syndrome (AGS3). By utilizing full‑gene sequencing and, when indicated, supplementary transcriptomic analysis, it delivers high precision for early neurological intervention and family planning. This disorder presents in infancy with severe encephalopathy, intracranial calcifications, and leukodystrophy; molecular confirmation enables tailored management strategies and accurate recurrence risk counseling.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Seq) |
|---|---|---|
| Analytical Sensitivity | >99.9% | ~95% (limited exons) |
| Gene Coverage | Full coding + flanking intronic regions | Selected exons only |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks |
| Reflex to Transcriptome | Available | Not applicable |
Physician Insight & Safety Protocols
“Pursuing genetic testing for Aicardi‑Goutières syndrome can be emotionally challenging for families. The RNASEH2C gene analysis provides indispensable evidence for a precise diagnosis and informs reproductive decision‑making. It must always be interpreted alongside thorough clinical evaluation and neuroimaging. Our dedicated team supports you with empathetic, clear result counseling every step of the way.”
— Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory Notice
Do not discontinue prescribed medication without consulting your doctor. Anticonvulsants, immunosuppressants, or other therapies must only be adjusted under physician supervision.
Exclusion Criteria & Safety Red Flags
- This test is not a substitute for urgent clinical assessment. If the patient develops new‑onset seizures, acute loss of milestones, or severe unexplained irritability, seek emergency care immediately.
- Not intended for prenatal diagnosis without prior written genetic counseling and informed consent.
- Recent blood transfusion or major febrile illness within 2 weeks may require rescheduling.
- Specimens must be collected following strict cold‑chain protocols; any deviation can compromise accuracy.
Patient FAQ & Clinical Guidance
1. What is the RNASEH2C gene test used for?
The RNASEH2C test detects mutations in the RNASEH2C gene causing Aicardi‑Goutières syndrome type 3 (AGS3), a severe neuroinflammatory disorder. It is ordered for infants and children with early‑onset encephalopathy, intracranial calcifications, or leukodystrophy to confirm the molecular diagnosis. The result enables tailored management strategies and accurate recurrence risk estimation for family planning.
2. How is the sample collected?
A DHA‑licensed phlebotomist performs the blood draw at your home via VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection, available daily 8 AM to 11 PM. The sample is a standard peripheral whole blood specimen preserved at 2‑8 °C and dispatched to our ISO‑certified laboratory. No special preparation is required.
3. How long does it take to get results?
Results are typically available within 3 to 4 weeks. Once NGS and optional transcriptome analysis are complete, a detailed report showing the variant classification (pathogenic, likely pathogenic, likely benign, benign, or variant of uncertain significance) is issued. Our clinical team then schedules a confidential tele‑consultation to explain the findings and next steps.
4. Is genetic counseling included with this test?
Yes, a complimentary post‑test genetic counseling session with our Consultant Medical Genetics specialist is included. This session addresses result interpretation, recurrence risks, and implications for family members. Pre‑test counseling is available upon request to discuss the benefits and limitations of testing.
5. Can this test be performed on an archival tissue sample?
No, this test requires a fresh peripheral whole blood specimen for DNA extraction. Archival tissue such as FFPE blocks or biopsy slides are not suitable for this specific NGS protocol. Please contact our laboratory for alternative testing options if only archival material is available.
UAE Regulatory & Data Privacy Adherence
Data Privacy and Security Framework: Your personal health information is protected under 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 data is encrypted, access‑controlled, and retained only as required by UAE health regulations.
Clinical Safety and Informed Consent: Specimen collection and testing procedures adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability, ensuring patient safety, consent protocols, and professional accountability throughout the diagnostic pathway.
DHA Oversight: DNA Labs UAE operates under DHA Facility License Number 1143, located at Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE. All laboratory processes are subject to regular inspection and accreditation audits.
Clinical & Logistical Metadata
| Test Name | RNASEH2C Gene Aicardi‑Goutières Syndrome Type 3 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral whole blood (3–5 mL in EDTA tube) — VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily 8 AM–11 PM |
| Methodology Used | Next‑Generation Sequencing (NGS) — full gene coding regions and flanking intronic boundaries; reflex to transcriptome analysis available on clinical indication |
| ICD-10-CM Code | G31.89 (Other specified degenerative diseases of nervous system); Z13.89 (Genetic carrier screening) |
| LOINC Code | 85468-8 (RNASEH2C gene mutation analysis in Blood or Tissue by Sequencing) |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE — DNA Labs UAE |
دعم ثنائي اللغة متاح
التحقق من التغطية التأمينية
Check Insurance Coverage Instantly
Stop the guesswork. Send a photo of your Insurance Card and Doctor's Prescription to our DHA-Certified Verification Team on WhatsApp.
توقف عن التخمين. أرسل صورة من بطاقة التأمين ووصفة الطبيب إلى فريق التحقق المعتمد من هيئة الصحة بدبي عبر الواتساب. احصل على تحديث الحالة في دقائق.
Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians