Test Price
2,800 AEDโ Home Collection Available
ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test
Executive Summary & Core Metrics
Core Metrics
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Accredited NGS Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation by DHA-Licensed specialists.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test detects pathogenic variants in the ACTB gene, providing definitive molecular confirmation for suspected Baraitser-Winter syndrome. This test is essential for accurate diagnosis, guiding pediatric and neonatal management, and enabling familial genetic counselling. Next Generation Sequencing (NGS) is the primary methodology, encompassing full ACTB gene analysis including coding exons and flanking intronic regions for maximum diagnostic yield.
| Feature | Our Test (DHA-Approved) | Closest Alternative |
|---|---|---|
| Methodology | Next Generation Sequencing (NGS) โ full ACTB gene analysis | Single-gene Sanger sequencing (limited to known hotspots) |
| Turnaround Time | 3โ4 Weeks | 4โ6 Weeks |
| Pre-Test Support | Mandatory Genetic Counselling & Pedigree Charting included | May not include pedigree analysis |
| Sample Type | Blood (EDTA) or DNA FTA Card (cold-chain collection) | Blood only |
Physician Insight & Safety Protocols
โAs a Consultant Medical Genetics specialist, I emphasize that molecular confirmation of Baraitser-Winter syndrome through ACTB gene analysis is critical for accurate prognostication and family counselling. A positive result confirms the diagnosis and guides management, while a negative result does not entirely exclude the condition if clinical features are strongly suggestive. Correlation with the complete clinical phenotype is essential for final interpretation.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory Medication Notice
Do not discontinue any prescribed medication before sample collection without consulting your physician. Maintain all current therapies unless explicitly advised otherwise by your ordering specialist. Inform the phlebotomist of all medications and supplements you are currently taking.
Exclusion Criteria & Emergency Red Flags
- Active febrile illness or systemic infection โ reschedule after recovery.
- Known bleeding disorder or current anticoagulant therapy that cannot be paused safely โ blood draw may require hospital-based setting.
- If you develop excessive bruising, uncontrolled bleeding, or signs of infection at the venipuncture site post-collection, seek emergency medical attention immediately.
Patient FAQ & Clinical Guidance
1. What is the ACTB gene Baraitser-Winter syndrome type 1 test used for?
This Genetic Test provides molecular evidence that guides surgical, developmental, and genetic counselling decisions for affected children and their families. It identifies pathogenic variants in the ACTB gene to confirm the diagnosis of Baraitser-Winter syndrome type 1, a severe congenital malformation disorder.
2. How should I prepare for the blood sample collection?
No fasting is required; however you must complete the mandatory genetic counselling session where a pedigree chart is drawn. Our phlebotomist will collect the sample using a cold-chain transport medium to preserve DNA integrity, ensuring the testโs accuracy and reliability.
3. When will I receive my results and how are they explained?
Results are typically ready in 3 to 4 weeks and will be delivered via a secure portal. A post-test clinical guidance call with a DHA-certified professional will interpret the findings, explain the significance of the detected variant, and outline the next steps for your childโs care plan.
4. Does a negative result exclude Baraitser-Winter syndrome completely?
A negative result reduces but does not eliminate the possibility of Baraitser-Winter syndrome. Some variants may be missed by sequencing, or the condition could be caused by variants in other genes not analyzed in this test. Clinical correlation with a medical genetics specialist is always recommended.
UAE Regulatory & Data Privacy Adherence
This test and its associated data handling procedures comply with:
- Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL) โ safeguarding all patient genetic and clinical information.
- Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields โ governing secure electronic health records and telemedicine interactions.
- Federal Decree-Law No. 4 of 2016 on Medical Liability โ ensuring clinical safety, informed consent, and professional accountability throughout the testing pathway.
DNA Labs UAE is fully licensed by the Dubai Health Authority (DHA) and adheres to the highest standards of confidentiality and ethical practice in genetic testing.
Clinical & Logistical Metadata
| Test Name | ACTB Gene Baraitser-Winter Syndrome Type 1 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3โ4 Weeks |
| Sample Type / Matrix | Blood (EDTA) or DNA FTA Card |
| Methodology Used | Next Generation Sequencing (NGS) โ Full ACTB Gene Analysis |
| ICD-10-CM Code | Q87.8 |
| LOINC Code | 96527-2 |
| DHA Facility License & Address | License No: 1143 โ Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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