Test Price
2,800 AED✅ Home Collection Available
ADAR Gene Aicardi-Goutières Syndrome Type 6 Genetic Test in the UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- 99.9% Diagnostic Sensitivity: ISO 9001:2015 accredited processing ensures high-confidence detection of all pathogenic ADAR variants.
- VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection: Hospital-grade blood draw at your residence, available daily from 8 AM to 11 PM.
- Telephonic Post-Test Clinical Guidance: Direct consultation with a Consultant Medical Geneticist for result interpretation and family counselling.
- Direct Insurance Verification: Pre-authorization and billing support via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) panel interrogates the entire coding region and splice sites of the ADAR gene. Aicardi‑Goutières syndrome type 6 is a rare autosomal recessive encephalopathy characterised by intracranial calcifications, leukodystrophy, and elevated interferon-alpha in cerebrospinal fluid. Our assay achieves single‑nucleotide resolution, enabling definitive diagnosis and informed family planning.
| Feature | This Test (ADAR NGS) | Alternative (Sanger Sequencing) |
|---|---|---|
| Precision | 99.9% sensitivity for all ADAR variants | ~95% for known mutations only |
| Methodology | NGS on Illumina platform with bioinformatic depth | Limited exons, may miss novel variants |
| Turnaround Time | 3–4 weeks | 2–3 weeks (but reduced detection rate) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA: 9294403):
“Aicardi‑Goutières syndrome type 6 often presents in infancy with microcephaly, spasticity, and sterile pyrexia. The ADAR mutation must be correlated with CSF interferon-alpha levels and serial neuroimaging. Early genetic confirmation allows families to access targeted therapies and connect with specialist neurology teams. I recommend pre‑test counselling to discuss potential carrier implications for siblings.”
Patient Advisory
Important Medication Notice
Do not stop any anticonvulsant, steroid, or immunomodulatory therapy without explicit instructions from your treating physician. Sudden withdrawal may worsen neurological symptoms.
Exclusion Criteria for Home Collection
- Patient unable to maintain patent airway during venipuncture
- Known severe bleeding disorder (e.g., hemophilia, von Willebrand disease) without prior medical clearance
- Active fever > 38.5°C or evidence of systemic infection
Emergency Red Flags – Seek Immediate Medical Attention
- New-onset seizures, prolonged apnea, or dystonic posturing
- Sudden loss of consciousness or decerebrate rigidity
- Signs of raised intracranial pressure (persistent vomiting, bradycardia, sunsetting eyes)
Patient FAQ & Clinical Guidance
1. What is the recommended age for this test?
The ADAR gene test is indicated from birth onward when clinical features (intracranial calcifications, leukodystrophy, elevated CSF interferon‑alpha, negative TORCH screen) suggest Aicardi‑Goutières syndrome type 6. Early diagnosis maximises intervention benefit.
2. How is the sample collected for infants?
A paediatric trauma‑minimising venipuncture obtains 1–2 mL of whole blood. Our DHA‑licensed neonatal phlebotomist uses cold‑chain transport to preserve nucleic acid integrity. Home collection is available 8 AM – 11 PM daily.
3. Can this test be performed during pregnancy?
Yes, after prior identification of the familial ADAR mutation, prenatal diagnosis via chorionic villus sampling or amniocentesis is possible. This requires genetic counselling and compliance with UAE Federal Law No. 2 of 2019 on health data and consent.
4. What does a positive result mean for family planning?
Autosomal recessive inheritance implies a 25% recurrence risk per pregnancy. Carrier testing for parents and at‑risk relatives is recommended. Our genetic counsellor will discuss reproductive options including preimplantation genetic testing.
UAE Regulatory & Data Privacy Adherence
Compliance Standards: This test 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. Clinical liability is governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted in transit (TLS 1.3) and at rest (AES‑256).
Facility License: DHA License No. 1143
Laboratory Address: Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE
Contact: WhatsApp +971 54 548 8731 | Collection Hours: Daily 8 AM – 11 PM
Clinical & Logistical Metadata
| Test Name | ADAR Gene Sequencing – Aicardi-Goutières Syndrome Type 6 |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (from sample receipt) |
| Sample Type / Matrix | Peripheral whole blood (2 mL EDTA) |
| Methodology Used | Next-Generation Sequencing (Illumina) – full gene coverage |
| ICD-10-CM Code | G93.41 (Aicardi-Goutières syndrome) |
| LOINC Code | 82299-8 (ADAR gene mutation analysis) |
| DHA Facility License & Address | License 1143 · Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, 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