Test Price
2,800 AED✅ Home Collection Available
TUBB2A Gene Cortical Dysplasia, Complex with Other Brain Malformations Type 5 Genetic Test in UAE
Executive Summary: This advanced TUBB2A gene sequencing test delivers precise molecular diagnosis for cortical dysplasia complex with other brain malformations type 5, achieving >99.9% diagnostic sensitivity through ISO 9001:2015 certified processing. The test enables neurologists and clinical geneticists to confirm the genetic etiology, stratify seizure management, and provide informed reproductive counselling.
- Diagnostic Precision: >99.9% sensitivity via full gene NGS analysis covering all coding exons and splice sites.
- VIP Home Collection: Temperature-controlled cold-chain phlebotomy available daily from 8 AM to 11 PM across Dubai and UAE.
- Post-Test Counselling: Complimentary telephonic consultation with our DHA-licensed medical geneticist to discuss results and next steps.
- Insurance Assistance: Direct coverage verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
This next-generation sequencing (NGS) assay decodes the entire coding region and flanking intronic boundaries of the TUBB2A gene on chromosome 6p25.2. Pathogenic variants in TUBB2A cause autosomal dominant cortical dysplasia, complex with other brain malformations type 5 (OMIM #615771), a severe neurodevelopmental disorder characterized by abnormal cortical lamination, seizures, motor impairment, and intellectual disability. Definitive molecular diagnosis empowers clinicians to tailor antiepileptic therapy, evaluate surgical candidacy for drug-resistant epilepsy, and counsel at-risk family members with precision.
| Feature | Our Test (DNA Labs UAE) | Closest Alternative |
|---|---|---|
| Methodology | NGS (Full Gene Sequencing) | Sanger Sequencing (Targeted Exons) |
| Mutation Detection | All variants, including novel | Only known hot-spot variants |
| Turnaround Time | 3–4 Weeks | 4–6 Weeks (Overseas) |
| Regulatory Compliance | DHA/MOHAP Licensed, ISO 9001 | Often non-UAE accredited |
| Precision | >99.9% Diagnostic Sensitivity | >99% (limited scope) |
Physician Insight & Safety Protocols
Families confronting a possible cortical dysplasia diagnosis carry a heavy burden of uncertainty. This comprehensive TUBB2A gene test provides the molecular clarity needed to confirm the diagnosis, stratify seizure prognosis, and guide targeted interventions. I strongly recommend that every patient undergoes dedicated pre-test and post-test genetic counselling so that results are interpreted within the full clinical and family context, empowering informed decisions about treatment and family planning.
Advisory – Medication Continuation
Do not discontinue any prescribed antiepileptic or other medication without direct consultation with your treating neurologist. If new symptoms or side effects emerge, seek in-person evaluation immediately.
Exclusion Criteria & Emergency Red Flags
- Exclusion: Recent blood transfusion within 4 weeks, active untreated systemic infection, inability to provide informed consent, or any contraindication to venipuncture.
- Pre-requisite: A dedicated genetic counselling session to construct a detailed pedigree of affected family members and document full clinical history is mandatory prior to sample collection.
- Emergency Red Flags: Seek immediate emergency care if the patient experiences sudden increase in seizure frequency, prolonged loss of consciousness, respiratory distress, or signs of elevated intracranial pressure (severe headache, vomiting, altered mental status).
Patient FAQ & Clinical Guidance
1. What does the TUBB2A gene test reveal, and how does it influence management?
This test sequences the entire TUBB2A gene to identify pathogenic mutations causing cortical dysplasia complex with other brain malformations type 5. A positive result directly guides antiepileptic drug selection, surgical candidacy evaluation for drug-resistant epilepsy, and enables targeted family screening and reproductive counselling.
2. How should I prepare, and what sample is needed?
No fasting is required. A standard peripheral whole blood sample (two EDTA tubes) is collected by our VIP mobile phlebotomy service under strict temperature-controlled cold-chain conditions, available daily from 8 AM to 11 PM. Alternatively, an FTA card or previously extracted DNA can be accepted after verification.
3. What do my results mean, and what are the next steps?
A positive result confirms a TUBB2A-related disorder and triggers a multidisciplinary review with neurology, genetics, and epilepsy surgery teams. A negative or uncertain result still requires careful clinical correlation and may warrant broader genomic testing (whole exome or genome sequencing) to identify alternative etiologies.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE operates under DHA Facility License No. 1143 and complies with UAE 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 consent protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability. ISO 9001:2015 Certified (INT/EGQ/2509DA/3139).
Clinical & Logistical Metadata
| Test Name | TUBB2A Gene Cortical Dysplasia, Complex with Other Brain Malformations Type 5 Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (2 EDTA tubes), FTA Card, or Extracted DNA |
| Methodology Used | Next-Generation Sequencing (NGS) – Full Gene Coding Regions & Splice Sites |
| ICD-10-CM Code | Q04.5 (Cortical Dysplasia) |
| LOINC Code | 21665-7 (Genetic analysis) |
| DHA Facility License & Laboratory Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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