Test Price
2,800 AED✅ Home Collection Available
SMARCA2 Gene Sequencing for Nicolaides-Baraitser Syndrome | DNA Labs UAE
Executive Summary & Core Metrics
Accuracy Guarantee: 99.9% diagnostic sensitivity through targeted NGS analysis of the SMARCA2 gene, processed in a CAP-accredited laboratory facility with stringent quality controls.
Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Standard peripheral whole blood sample.
Clinical Oversight: Consultant Medical Genetics Lina Osama Zaki Quteineh (DHA ID: 9294403) supervises the diagnostic interpretation and reporting pipeline.
Insurance & Billing: Direct billing verification available via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This targeted genetic test sequences the coding regions and conserved splice sites of the SMARCA2 gene to identify pathogenic variants responsible for Nicolaides-Baraitser syndrome (NCBRS). The test provides a definitive molecular diagnosis in children presenting with characteristic dysmorphic features, intellectual disability, and sparse hair, enabling accurate family counseling and clinical management.
| Feature | Our Targeted SMARCA2 Assay | Whole Exome Sequencing (WES) |
|---|---|---|
| Analytic Sensitivity | 99.9% for SMARCA2 coding variants | May miss deep intronic or low-coverage regions |
| Cost Efficiency | Targeted, lower cost (2,800 AED) | Broader but significantly higher cost |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
“The SMARCA2 sequencing assay provides a definitive molecular anchor for diagnosing Nicolaides-Baraitser syndrome. However, clinical correlation with dysmorphology assessment and developmental history remains critical. A positive result confirms the diagnosis, while a negative result does not entirely exclude the syndrome if clinical suspicion is high—multigene panels or exome sequencing may be considered as a reflex.” – Ms. Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Genetic Counseling Advisory
Genetic testing for Nicolaides-Baraitser syndrome should be accompanied by pre-test and post-test genetic counseling to discuss the implications of potential results, including carrier status and family planning. This test is not intended for standalone diagnostic decision-making without clinical correlation. Do not discontinue any prescribed therapies or interventions based solely on preliminary genetic findings without consulting the referring physician or genetic counselor.
Exclusion Criteria & Emergency Red Flags
- Asymptomatic minors without a strong clinical suspicion of NCBRS and without formal written informed consent from a parent or guardian, in accordance with the UAE Child Rights Law (Wadeema’s Law) and Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Patients presenting with acute severe illness (e.g., uncontrolled seizures, status epilepticus, respiratory distress) – medical stabilization must take priority, and elective genetic testing should be deferred.
- If a family member experiences sudden onset of seizures or loss of consciousness, seek emergency medical care immediately. This elective genetic test does not provide acute clinical management.
Patient FAQ & Clinical Guidance
1. What is Nicolaides-Baraitser syndrome and how is it diagnosed?
Nicolaides-Baraitser syndrome (NCBRS) is a rare genetic disorder characterized by severe intellectual disability, short stature, sparse hair, seizures, and distinctive facial features. Diagnosis is confirmed through molecular genetic testing identifying a pathogenic variant in the SMARCA2 gene, combined with clinical evaluation by a medical geneticist.
2. How should I prepare my child for the sample collection?
No special preparation such as fasting is required for this genetic test. However, ensure the child is well-hydrated to facilitate a smooth blood draw. If a sedative is required due to anxiety, this must be arranged strictly at the hospital or collection center. Our VIP Mobile Phlebotomist can collect the sample at your home under standard conditions.
3. What is the turnaround time and how will I receive the results?
The turnaround time is 3 to 4 weeks from the date a high-quality sample is received by the laboratory. Results are delivered electronically via a secure, encrypted PDF report to the referring physician and the patient portal. A telephonic post-test clinical guidance session with our genetic counseling team is included to explain the findings and their implications.
UAE Regulatory & Data Privacy Adherence
Trust & Compliance Framework
DNA Labs UAE strictly operates under the regulatory purview of the Dubai Health Authority (DHA) and adheres to the highest standards of medical data governance. All genetic data generated from this test is processed and stored 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. Patient consent protocols follow the mandates of Federal Decree-Law No. 4 of 2016 on Medical Liability. Our DHA-licensed facility ensures that your genetic information is used solely for diagnostic purposes and is never shared without explicit written consent.
Clinical & Logistical Metadata
| Test Name | SMARCA2 Gene Sequencing (Nicolaides-Baraitser Syndrome) |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA) or Extracted Genomic DNA |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) on Illumina Platform |
| ICD-10-CM Code | Q87.1 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | License No: 1143, Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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