Test Price
2,800 AED✅ Home Collection Available
SAMHD1 Gene Aicardi-Goutières Syndrome Type 5 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
This high-precision genetic assay employs next-generation sequencing (NGS) to detect pathogenic variants in the SAMHD1 gene, confirming or excluding Aicardi-Goutières syndrome type 5. The test is performed in a DHA-licensed laboratory (license 1143) with ISO-accredited processes, ensuring 99.9% diagnostic sensitivity. Mobile phlebotomy and cold-chain home collection are available for patient convenience.
- ✓Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Accredited Processing.
- ✓Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (daily 8 AM – 11 PM).
- ✓Clinical Guidance: Telephonic post-test counselling by a consultant medical geneticist.
- ✓Insurance: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The SAMHD1 NGS test sequences all coding exons and splice junctions of the SAMHD1 gene using Illumina® NovaSeq™ technology with a validated bioinformatic pipeline capable of detecting single-nucleotide variants, small insertions/deletions, and copy-number variations. This method provides definitive molecular diagnosis for Aicardi-Goutières syndrome type 5, an early‑onset encephalopathy with basal ganglia calcification and leukodystrophy.
| Feature | Our Test | Single-Gene Sanger Sequencing |
|---|---|---|
| Precision | Full gene NGS with CNV detection; 99.9% sensitivity | Targeted exon‑by‑exon; may miss deep intronic variants |
| Methodology | Illumina® NovaSeq™ + bioinformatic pipeline | Capillary electrophoresis; limited resolution |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“As a clinical geneticist, I emphasize that the SAMHD1 NGS assay delivers highly accurate molecular confirmation. However, results must always be integrated with neuroimaging, CSF interferon-alpha levels, and thorough developmental assessment. Genetic counselling is essential for families before and after testing.”
Medication Advisory
Do not discontinue any prescribed medication without consulting your doctor. Genetic test results do not replace your physician’s clinical judgment. Any changes to treatment must be made under direct medical supervision.
Safety Profile & Exclusion Criteria
Exclusion Criteria
- Active severe infection or febrile illness on collection day
- Recent major surgery (within 2 weeks)
- Inability to provide informed consent (guardian required for minors)
Emergency Red Flags (post-test)
- Sudden onset of seizures or status epilepticus
- Rapid neurological deterioration
- Signs of increased intracranial pressure (persistent vomiting, lethargy)
If any of these occur, seek urgent medical care at the nearest DHA-licensed emergency department.
Patient FAQ & Clinical Guidance
1. What does a positive SAMHD1 NGS result mean for my child’s neurological prognosis?
A positive result confirms a diagnosis of Aicardi-Goutières syndrome type 5, enabling precise neurological management and genetic counselling. Pathogenic SAMHD1 variants typically cause an interferonopathy that may be treatable with JAK inhibitors and supportive care. Early intervention can improve outcomes.
2. How can I arrange a certified home collection for the SAMHD1 test in Dubai or Abu Dhabi?
You can book VIP mobile phlebotomy via WhatsApp at +971 54 548 8731. Our DHA-licensed team follows strict cold-chain protocols and prepares FTA cards to ensure DNA stability during transport. Service is available daily from 8 AM to 11 PM.
3. Will my insurance cover the cost of the SAMHD1 genetic test in the UAE?
Many UAE insurers reimburse medically justified genetic tests when pre-authorized. We verify coverage instantly via WhatsApp and provide the required ICD-10-CM codes (G31.82, Z13.71) for your claim.
UAE Regulatory & Data Privacy Adherence
This test is performed in full compliance with the UAE’s 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 patient data is encrypted, access-controlled, and processed under strict confidentiality agreements. Clinical safety and informed consent procedures align with Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | SAMHD1 Gene Aicardi-Goutières Syndrome Type 5 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 & Cold-Chain Home Collection available |
| Methodology Used | Next-Generation Sequencing (NGS) on Illumina® NovaSeq™ platform with CNV analysis |
| ICD-10-CM Code | G31.82, Z13.71 |
| LOINC Code | 92841-1 |
| DHA Facility License & Laboratory Address | License No. 1143 – Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE (DNA Labs UAE) |
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التحقق من التغطية التأمينية
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Available in Arabic, English, Hindi & Urdu
ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians