Test Price
2,800 AED✅ Home Collection Available
TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test in UAE | 2800 AED | DHA Guidelines
Executive Summary & Core Metrics
A DHA-licensed, precision genetic diagnostic assay utilising Next‑Generation Sequencing (NGS) to detect pathogenic variants in the TBC1D24 gene associated with familial infantile myoclonic epilepsy. Delivering definitive molecular answers for affected infants and at-risk family members in the UAE.
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO 9001:2015 Certified Processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance in result interpretation.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The TBC1D24 Gene Familial Infantile Myoclonic Epilepsy NGS Test identifies pathogenic variants in the TBC1D24 gene, which encodes a Rab GTPase-activating protein critical for synaptic vesicle trafficking. Pathogenic alterations lead to early-onset myoclonic seizures, often with developmental delay. This targeted sequencing approach provides a definitive molecular diagnosis for affected patients and at-risk family members in the UAE, enabling precise genetic counselling and personalised management.
| Feature | Our Test | Closest Alternative (Standard WES) |
|---|---|---|
| Diagnostic Precision | 99.9% sensitivity for TBC1D24 point mutations & small indels | ~95% sensitivity, may miss intronic/splice-site variants |
| Methodology | Targeted NGS with proprietary bioinformatics pipeline | Whole Exome Sequencing (broader but less focused) |
| Turnaround Time | 3–4 Weeks | 6–8 Weeks |
Physician Insight & Safety Protocols
From Lina Osama Zaki Quteineh, Consultant Medical Genetics (DHA Registration ID: 9294403): “Identifying a pathogenic variant in TBC1D24 provides a clear molecular anchor for the epilepsy syndrome. However, the clinical picture—EEG findings, developmental trajectory, and seizure semiology—must always contextualise the genetic result. Pre-test genetic counselling is essential to prepare the family for both the diagnostic possibilities and the limitations of variant interpretation.”
Medication Advisory
Never cease or modify any prescribed anti-epileptic medication without direct consultation with your treating neurologist. Abrupt changes can precipitate prolonged seizures or status epilepticus, which require immediate emergency intervention.
Exclusion Criteria & ER Red Flags
- Exclusion: Individuals unable to provide valid informed consent (or legal guardian consent for minors) per Federal Decree-Law No. 4 of 2016 on Medical Liability; absence of a clear clinical indication for familial infantile myoclonic epilepsy testing.
- Red Flags – Seek Immediate Emergency Care: Seizure activity lasting longer than 5 minutes, respiratory difficulty, cyanosis, or loss of consciousness. Do not delay emergency care for sample collection.
Patient FAQ & Clinical Guidance
1. What is the TBC1D24 gene test and why is it ordered for my child?
This targeted Next‑Generation Sequencing analysis identifies harmful changes in the TBC1D24 gene responsible for familial infantile myoclonic epilepsy, a rare seizure disorder beginning in infancy. The result guides diagnosis, prognosis, and family planning decisions.
2. How should I prepare my child for the sample collection at home?
No special preparation is required. A trained phlebotomist will collect a single small blood sample during the home visit. A pre-test genetic counselling session is mandatory to document family history and construct a three-generation pedigree.
3. Will my insurance cover the 2800 AED cost, and how do I verify?
Many UAE health insurers now cover clinically indicated genetic tests. Send your insurance card and DHA-approved referral via WhatsApp to +971 54 548 8731 for immediate coverage verification and direct billing.
UAE Regulatory & Data Privacy Adherence
DNA Labs UAE 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. Clinical safety and patient consent are governed under Federal Decree-Law No. 4 of 2016 on Medical Liability.
Clinical & Logistical Metadata
| Test Name | TBC1D24 Gene Familial Infantile Myoclonic Epilepsy Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks |
| Sample Type / Matrix | Peripheral Whole Blood (EDTA tube) or FTA Card Dried Blood Spot |
| Methodology Used | Next‑Generation Sequencing (NGS) – Targeted Gene Panel |
| ICD-10-CM Code | G40.4 |
| LOINC Code | 94037-1 |
| DHA Facility License & Laboratory Address | DHA Facility License Number: 1143 — Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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