Test Price
2,800 AED✅ Home Collection Available
TUBA8 Gene Polymicrogyria with Optic Nerve Hypoplasia Genetic Test in UAE | 2,800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity via ISO 9001:2015-certified targeted NGS with Sanger confirmation of all pathogenic variants.
- Specimen Logistics: VIP mobile phlebotomy and temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM.
- Post-Test Support: Telephonic consultation with a consultant medical geneticist to interpret results and guide clinical decisions.
- Insurance Facilitation: Direct pre-authorization verification via WhatsApp at +971 54 548 8731 within 24 hours.
Test Overview & Methodology
This advanced next-generation sequencing assay decodes the entire TUBA8 gene to confirm or exclude the genetic etiology of polymicrogyria with optic nerve hypoplasia, a severe neurodevelopmental disorder. The report delivers definitive molecular evidence enabling pediatricians, neurologists, and ophthalmologists to tailor early intervention and genetic counseling.
| Feature | Our Test (NGS) | Closest Alternative (Sanger Only) |
|---|---|---|
| Method | Targeted NGS + CNV Analysis, confirmed by Sanger | Sanger sequencing of coding exons only |
| Diagnostic Yield | >99% for variants (point mutations & deletions) | ~85%, limited to small variants |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
| Price (AED) | 2,800 | 3,200–3,800 |
Physician Insight & Safety Protocols
“Molecular genetic testing for TUBA8 provides definitive diagnostic clarity in patients presenting with polymicrogyria and optic nerve hypoplasia. However, each result must be correlated with full neuroimaging and clinical examination findings. Variants of uncertain significance require parental segregation analysis before definitive conclusions are drawn. Ongoing neurological management should not be adjusted solely on the basis of genetic data.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics | DHA Registration ID: 9294403
Advisory
Medication Stability Notice
Do not interrupt any prescribed therapy, including antiepileptic or neuroprotective agents, without explicit direction from your treating consultant. Genetic test results complement but do not supersede clinical judgment. Always consult your neurologist or geneticist before implementing changes to your medication regimen.
Safety Exclusion Criteria & Red Flags
- Individuals unable to provide informed consent and without a legally authorized representative.
- Suspected somatic mosaicism that may require alternative tissue sampling beyond peripheral blood.
- Acute neurological deterioration (e.g., new-onset intractable seizures, loss of consciousness) — seek emergency care before scheduling elective genetic testing.
Patient FAQ & Clinical Guidance
1. What is the clinical utility of TUBA8 gene testing?
TUBA8 gene sequencing identifies pathogenic variants causing polymicrogyria with optic nerve hypoplasia, enabling precise diagnosis, targeted genetic counseling, and informed reproductive planning. This test also distinguishes this rare ciliopathy from overlapping brain malformation syndromes.
2. How long does it take to receive my results?
Results are typically available within 3 to 4 weeks using our ISO-certified NGS workflow, which includes confirmatory Sanger sequencing and comprehensive clinical interpretation. Urgent preliminary findings can be communicated to your referring physician earlier upon request.
3. Is this genetic test covered by health insurance?
We offer direct insurance billing verification for this genetic test via WhatsApp, subject to policy coverage and pre-authorization requirements. Our support team will help you obtain the necessary approvals within 24 hours.
UAE Regulatory & Data Privacy Adherence
Your data is protected under 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 clinical testing, patient safety, and consent procedures comply with Federal Decree-Law No. 4 of 2016 on Medical Liability. DNA Labs UAE maintains strict confidentiality, secure data handling, and transparent consent protocols throughout the testing lifecycle.
Clinical & Logistical Metadata
| Test Name | TUBA8 Gene Sequencing – Polymicrogyria with Optic Nerve Hypoplasia Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM) |
| Methodology Used | Targeted Next-Generation Sequencing (NGS) with CNV Analysis and Sanger Confirmation |
| ICD-10-CM Code | Q04.3, H47.0 |
| LOINC Code | 21636-6 |
| DHA Facility License & Address | DHA License No. 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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