Test Price
2,800 AED✅ Home Collection Available
GATAD2B Gene Sequencing (Autosomal Dominant Intellectual Disability Type 18) NGS Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
- ✓ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 15189 & ISO 9001:2015 accredited Next Generation Sequencing (NGS) with full coding exon coverage and splice site analysis. Close collaboration with the relevant Neurologist ensures clinical-grade variant interpretation.
- ✓ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection available daily from 8 AM to 11 PM. Our trained mobile phlebotomy team ensures sample integrity using DNA-stabilizing FTA Cards or EDTA whole blood tubes.
- ✓ Clinical Guidance: Telephonic Post-Test Clinical Guidance for result interpretation, bridging genomic findings with neurological phenotypes to support precise clinical decision-making.
- ✓ Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731. We handle pre-approval queries for neurology consultations linked to this genetic investigation.
Test Overview & Methodology
The GATAD2B gene encodes a transcriptional repressor critical for neurodevelopment; pathogenic variants cause Autosomal Dominant Intellectual Disability Type 18 (MRD18), featuring global developmental delay, limited speech, and distinct dysmorphic features. This NGS test comprehensively screens the full coding sequence to confirm a molecular diagnosis, guiding neurologists in targeted management and family recurrence risk counseling.
| Feature | Our GATAD2B NGS Test | Closest Alternative (Single Gene Sanger) |
|---|---|---|
| Diagnostic Precision | Massively Parallel Sequencing; Detects SNVs, indels, and small CNVs | Targeted base-by-base read; Limited to known mutation hotspots |
| Methodology | Next Generation Sequencing (NGS) with robust bioinformatics pipeline | Sanger Sequencing (limited throughput, stepwise cost) |
| Turnaround Time (TAT) | 3 to 4 Weeks (Comprehensive analysis & report) | Often >6 Weeks for full gene coverage via iterative runs |
Physician Insight & Safety Protocols
“In my clinical practice, a definitive GATAD2B molecular diagnosis transforms the patient's journey from a diagnostic odyssey to actionable management. However, a genetic variant's pathogenicity must always be interpreted within the full context of the patient's neurological phenotype and family history, not in isolation,” states Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA: 9294403), emphasizing clinical correlation.
⛔ Critical Medication Advisory
Do not discontinue or adjust any prescribed anti-epileptic, neuroleptic, or developmental support medication without direct consultation with your treating neurologist or physician. Genetic test results inform long-term strategy, not acute pharmacological changes. Clinical safety is guided by Federal Decree-Law No. 4 of 2016 on Medical Liability.
Patient Safety: Exclusion Criteria & Emergency Red Flags
- Exclusion: Inadequate sample volume (<1 drop on FTA Card or <1mL whole blood); Sample compromised by heparin contamination (inhibits sequencing enzymes); Recent hematopoietic stem cell transplant (allogeneic) may cause false-negative results.
- Emergency Red Flags (Urgent Neurology Review): Acute regression in achieved milestones; New-onset treatment-resistant seizures; Status epilepticus. These require immediate emergency intervention, not elective genetic testing.
Patient FAQ & Clinical Guidance
1. What is the role of the GATAD2B NGS test in managing intellectual disability in the UAE?
Confirming a GATAD2B mutation through NGS ends the diagnostic uncertainty, allowing neurologists to implement gene-specific surveillance protocols for associated non-neurological features such as congenital heart defects and to connect families with precise genetic counseling resources available in Dubai and Abu Dhabi. Early diagnosis facilitates access to specialized early intervention therapies tailored to MRD18's developmental trajectory.
2. Why is pre-test genetic counseling recommended before GATAD2B sequencing?
Pre-test genetic counseling is essential to construct a detailed family pedigree, confirm the autosomal dominant inheritance pattern, and accurately assess recurrence risk for siblings and future generations. This process aligns with DHA best practices for hereditary neurodevelopmental disorders.
3. What sample type is required for the GATAD2B NGS test?
A single drop of blood dried onto a specialized DNA FTA Card, or alternatively 2-3mL of whole blood in an EDTA tube, serves as the optimal starting material. The matrix stabilizes nucleic acids at ambient temperature during cold-chain transport. For patients unable to provide blood, extracted DNA of acceptable purity (A260/280 ratio ~1.8) is a viable alternative.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License Number 1143 and strictly complies 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. All genetic data is encrypted, access-controlled, and processed solely for diagnostic purposes with explicit patient consent. Clinical safety and patient consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | GATAD2B Gene Sequencing (Autosomal Dominant Intellectual Disability Type 18) NGS Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 21 to 28 Days (3–4 Weeks) |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) – Full coding exon coverage with splice site analysis |
| ICD-10-CM Code | Q87.89 |
| LOINC Code | 94474-7 |
| 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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