Test Price
2,800 AEDโ Home Collection Available
TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test in UAE | 2800 AED | DHA-Licensed Molecular Diagnostics
Executive Summary & Core Metrics
This advanced genetic test provides definitive molecular diagnosis of pathogenic variants causing microcephaly and neurodevelopmental malformations associated with the TUBG1 gene, powered by next-generation sequencing technology at a DHA-licensed laboratory facility.
Test Overview & Methodology
The TUBG1 gene encodes gamma-tubulin, a critical centrosomal protein essential for microtubule nucleation, mitotic spindle organization, and cortical neuronal migration during embryogenesis. Pathogenic heterozygous variants in TUBG1 cause autosomal dominant microcephaly with cortical malformations (OMIM: 615412), frequently presenting with simplified gyral patterning, agenesis of the corpus callosum, and moderate-to-severe global developmental delay. This single-gene sequencing assay analyzes the complete coding region and conserved splice-site junctions of TUBG1 to detect point mutations, small insertions and deletions, and copy number variations.
| Parameter | DNA Labs UAE TUBG1 NGS Test | Closest Alternative (Commercial Panel) |
|---|---|---|
| Precision / Coverage | Full Gene Coverage โ All exons ยฑ 20bp intronic boundaries; CNV detection via depth-of-coverage analysis | Limited to hotspot regions only; may miss deep intronic or regulatory variants |
| Methodology | NGS (Next Generation Sequencing) โ Illumina NovaSeq X Plus platform; read depth โฅ100x; Sanger confirmation of all reported variants | Microarray-based screening; low resolution for single-nucleotide variants; no sequencing confirmation |
| Turnaround Time | 3 to 4 Weeks โ Expedited reporting for critical neonatal/PICU cases available upon request | 6 to 10 Weeks โ extended batching delays common in offshore reference laboratories |
| ACMG Variant Classification | 2026 ACMG/AMP Guidelines โ Full five-tier classification with ClinVar cross-referencing | 2015 guidelines; limited or no VUS reclassification support |
Physician Insight & Safety Protocols
Clinical Correlation Note from Lina Osama Zaki Quteineh โ Consultant Medical Genetics | DHA Registration ID: 9294403
"A TUBG1 molecular diagnosis is life-altering but must always be interpreted within the full clinical context โ neuroimaging findings, developmental milestones, and family history remain irreplaceable pillars of the diagnostic odyssey. I counsel every family that a negative result does not exclude other genetic etiologies of microcephaly, and a VUS finding warrants periodic reanalysis as genomic databases evolve. This test empowers precise recurrence-risk counseling and opens pathways to early intervention services that demonstrably improve neurodevelopmental outcomes."
Critical Medication Advisory
⚠ Medication Safety Notice
Do not discontinue prescribed medication without consulting your doctor.
This genetic test is a diagnostic investigation and does not replace or modify any current therapeutic regimen. Any changes to anti-epileptic drugs, neurodevelopmental therapies, or supportive care must be directed exclusively by your treating neurologist or pediatrician.
Exclusion Criteria & Emergency Red Flags
Exclusion Criteria โ Home Collection Not Advisable If:
- Patient is currently admitted in NICU/PICU or under mechanical ventilation
- Active seizure episode within the last 24 hours โ reschedule when clinically stable
- Known bleeding diathesis or platelet count below 50,000/ยตL (venous draw contraindication mitigated by FTA card option)
- Neonate less than 48 hours old without prior pediatric clearance for blood draw volume
🚨 Emergency Red Flags โ Seek Immediate Medical Attention:
- New-onset infantile spasms, prolonged seizures (>5 minutes), or status epilepticus
- Acute deterioration in consciousness, feeding refusal, or respiratory distress
- Signs of raised intracranial pressure โ projectile vomiting, sunsetting eyes, bulging fontanelle
- Any acute neurological regression โ loss of previously acquired milestones within 72 hours
These red flags are independent of genetic test scheduling. If present, proceed directly to the nearest emergency department or call 998 for UAE Ambulance Services.
Patient FAQ & Clinical Guidance
1. What does the TUBG1 gene test diagnose, and who should consider it?
The TUBG1 NGS test definitively identifies pathogenic variants causing autosomal dominant microcephaly with cortical brain malformations, enabling precise neurodevelopmental prognosis and family recurrence-risk assessment. This test is clinically indicated for infants and children presenting with congenital microcephaly (occipitofrontal circumference below -3 SD), simplified gyral pattern on brain MRI, agenesis/hypoplasia of the corpus callosum, and global developmental delay. It is also appropriate for adults with unexplained microcephaly and a history of neurodevelopmental challenges who seek a molecular diagnosis to inform family planning. A pre-test genetic counseling session is mandatory to draw a detailed pedigree chart of family members who may be affected.
2. How is the sample collected, and why does it take 3 to 4 weeks?
Sample collection is minimally invasive using whole blood drawn via standard venipuncture, extracted DNA, or a single drop of blood dried on an FTA card, all transported under ISO-certified cold-chain conditions to our DHA-licensed molecular laboratory. The 3-to-4-week turnaround time reflects the rigorous multi-step NGS workflow: genomic DNA extraction and quality control (Days 1โ2), library preparation and target enrichment for all TUBG1 exons (Days 3โ5), high-depth sequencing on the Illumina NovaSeq X Plus platform (Days 6โ8), bioinformatic alignment to GRCh38/hg38 reference genome with variant calling via GATK4 best practices (Days 9โ12), and finally, expert manual curation by our clinical molecular geneticist who classifies each variant per 2026 ACMG/AMP guidelines with ClinVar and HGMD cross-referencing, followed by Sanger validation of all reportable findings (Days 13โ21). Expedited neonatal reporting is available upon physician request for critical care scenarios.
3. Is this test covered by UAE medical insurance, and what support comes with my result?
Most UAE medical insurance policies โ including Daman, AXA Gulf, NAS, and Neuron โ provide coverage for medically indicated TUBG1 genetic testing when supported by a neurologist's or clinical geneticist's referral, with our team handling direct billing verification before your appointment. Every result includes a comprehensive clinical report with ACMG-classified variants and a telephonic post-test guidance session with a board-certified specialist who explains the findings in plain language, discusses implications for the patient and at-risk family members, and coordinates referrals to pediatric neurology, developmental pediatrics, and early intervention programs across Dubai, Abu Dhabi, Sharjah, and the Northern Emirates. For positive or VUS results, we facilitate complimentary reanalysis at 12-month intervals as genomic knowledge evolves โ a commitment to lifelong diagnostic clarity, not just a one-time report. Contact our support team via WhatsApp at +971 54 548 8731 to verify your insurance coverage or schedule a genetic counseling session.
UAE Regulatory & Data Privacy Adherence
Federal Decree-Law No. 45 of 2021 (PDPL)
All genomic data is stored, processed, and transmitted in full compliance with UAE Federal Personal Data Protection Law โ encrypted storage with restricted access and patient data sovereignty guarantees.
Federal Law No. 2 of 2019 (ICT in Health)
Strict adherence to health information technology regulations governing the use of information and communication technology in clinical laboratory data management and tele-genetic counseling.
Federal Decree-Law No. 4 of 2016 (Medical Liability)
Full compliance with clinical testing safety, patient consent protocols, and medical liability standards for all diagnostic genetic procedures.
ISO 9001:2015 Certified
Certificate No. INT/EGQ/2509DA/3139 โ Quality Management System audited and reaccredited, ensuring standardized operating procedures across all pre-analytical, analytical, and post-analytical phases.
DHA Facility License No. 1143
Dubai Health Authority licensed molecular diagnostics facility โ subject to annual inspection, proficiency testing, and external quality assessment schemes.
LOINC & ICD-10-CM Coding
LOINC: 101389-3 โ TUBG1 gene targeted sequence analysis. ICD-10-CM: Q02 (Microcephaly), F79 (Unspecified Intellectual Disability), Z13.79 (Encounter for Genetic Screening).
Clinical & Logistical Metadata
| Test Name | TUBG1 Gene Neurodevelopmental Malformation and Microcephaly Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks (Expedited neonatal reporting available upon physician request) |
| Sample Type / Matrix | Peripheral Whole Blood (Venipuncture) or Dried Blood Spot (FTA Card) |
| Methodology Used | Next Generation Sequencing (NGS) โ Illumina NovaSeq X Plus; Sanger confirmation of all reported variants |
| ICD-10-CM Code | Q02, F79, Z13.79 |
| LOINC Code | 101389-3 |
| DHA Facility License & Laboratory Address | License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE โ DNA Labs UAE |
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All reports reviewed by DHA-Certified physicians