Test Price
2,800 AED✅ Home Collection Available
ACTG1 Gene Baraitser‑Winter Syndrome Type 2 Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
Executive Summary
This advanced NGS test, processed under ISO 9001:2015 accredited protocols, delivers 99.9% diagnostic sensitivity for ACTG1‑related Baraitser‑Winter syndrome type 2. Benefit from hospital‑grade home collection (8 AM – 11 PM) with cold‑chain logistics, immediate telephonic post‑test clinical guidance, and direct insurance billing verification via WhatsApp at +971 54 548 8731. Molecular confirmation enables targeted developmental interventions, surveillance for coloboma complications, and accurate genetic counselling for your family.
Test Overview & Methodology
This gold‑standard NGS assay comprehensively sequences the entire ACTG1 coding region to detect pathogenic variants causing Baraitser‑Winter syndrome type 2, a rare developmental disorder characterised by distinctive facial features, coloboma, and brain anomalies. Test outcomes empower paediatricians, clinical geneticists, and neonatologists to implement early interventions and family screening.
| Feature | Our Test – ACTG1 NGS (UAE) | Closest Alternative (Research Panel) |
|---|---|---|
| Methodology | Full‑length NGS (Illumina platform) with Sanger confirmation | Targeted gene panel with limited ACTG1 coverage |
| Diagnostic Yield | >99.9% analytical sensitivity & specificity | ~92% sensitivity, may miss deep intronic variants |
| Turnaround Time | 3–4 weeks (stat reporting available) | 6–8 weeks |
| Clinical Interpretation | DHA‑licensed clinical geneticist review included | Raw data only; interpretation charged separately |
| Home Collection (UAE) | Hospital‑grade cold‑chain, 8 AM – 11 PM | Not available |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh | Consultant Medical Genetics | DHA Registration ID: 9294403
A positive ACTG1 variant should always be correlated with clinical dysmorphology findings and family history. Never make a definitive diagnosis without a comprehensive phenotypic evaluation; early paediatric neurologist involvement is critical for associated cortical malformations. Genome‑wide analysis may be warranted if the variant is of uncertain significance.
Advisory Precautions
Medication Continuity Notice
Do not discontinue any prescribed medication without consulting your doctor. Genetic test results do not replace current therapeutic plans. Always follow your physician’s guidance regarding treatment adjustments.
Exclusion Criteria & Emergency Red Flags
Safety Exclusion Criteria
- Exclusion Criteria: Individuals with severe uncontrolled coagulopathy or platelet count <30,000/μL are not eligible for venipuncture; saliva swab may be offered pending clinical approval. Minors must have legal guardian consent as per applicable UAE regulations.
- Emergency Red Flags: If the patient develops sudden seizures, severe respiratory distress, or acute neurological deterioration, proceed to the nearest emergency department immediately. This genetic test is not a replacement for urgent medical care.
Patient FAQ & Clinical Guidance
1. How does this NGS test help my child with suspected Baraitser‑Winter syndrome?
This NGS test identifies pathogenic ACTG1 mutations with near‑100% accuracy, enabling a molecularly‑confirmed diagnosis that guides targeted developmental interventions, surveillance for coloboma complications, and accurate genetic counselling for your family.
2. What do I need to prepare before the blood draw?
You must provide detailed clinical history and a three‑generation pedigree chart; a genetic counselling session is included before sample collection to ensure informed consent and accurate interpretation.
3. Is my child’s genetic data safe under UAE law?
Absolutely – all genetic 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, stored exclusively on encrypted, ISO‑certified servers with access limited to licensed clinicians.
UAE Regulatory & Data Privacy Adherence
Data Privacy Compliance
This test is performed 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. Clinical safety and patient consent are governed by Federal Decree‑Law No. 4 of 2016 on Medical Liability. All genetic data is encrypted, stored within UAE‑based secure servers, and accessible only by authorised healthcare professionals. Your privacy is our priority.
Clinical & Logistical Metadata
| Test Name | ACTG1 Gene Baraitser‑Winter Syndrome Type 2 Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 weeks (stat available on request) |
| Sample Type / Matrix | Whole Blood (Peripheral) – VIP Mobile Phlebotomy & Temperature‑Controlled Cold‑Chain Home Collection (Available daily 8 AM – 11 PM) |
| Methodology Used | Next‑Generation Sequencing (Illumina) with Sanger confirmation |
| ICD-10-CM Code | Q87.0 |
| LOINC Code | 95075-6 |
| 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
HIPAA
All reports reviewed by DHA-Certified physicians