Test Price
2,800 AEDโ Home Collection Available
BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
This advanced genetic test utilises Next-Generation Sequencing (NGS) technology as the precise diagnostic standard approved by the Dubai Health Authority (DHA) for detecting pathogenic mutations in the BRAT1 gene. The analysis covers the full gene sequence associated with a complex neurodevelopmental disorder in children and adults, featuring cerebellar atrophy and optional seizure activity, supporting therapeutic and personal decision-making in the United Arab Emirates under 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.
- โ Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO Certified NGS processing and bioinformatics pipeline.
- โ Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection across Dubai, Abu Dhabi, and all Emirates (available daily from 8 AM to 11 PM).
- โ Clinical Guidance: Telephonic Post-Test Genetic Counselling for result interpretation with a DHA-licensed Consultant Medical Geneticist.
- โ Insurance: Direct Billing Verification โ WhatsApp your insurance card to +971 54 548 8731.
Test Overview & Methodology
A highly specialised Genetic Test that simultaneously interrogates all coding exons and flanking regions of the BRAT1 gene to identify pathogenic variants responsible for a rare neurodevelopmental syndrome characterised by cerebellar atrophy and variable seizure activity. This comprehensive analysis is used to confirm the genetic diagnosis in patients suspected of BRAT1 disorder and is essential for treatment planning and medical genetics consultation.
Sample Types Accepted: Whole Blood (3โ5 mL in EDTA tube), Extracted DNA (min 2 ยตg), or One Drop of Blood on an FTA Card. Cold-chain maintained throughout home collection. Turnaround Time: 3 to 4 Weeks from receipt of fully consented sample and clinical documentation.
Test Comparison in UAE
| Feature | Our Test โ DHA-Approved NGS | Closest Alternative โ Gene Panel / Single PCR |
|---|---|---|
| Precision | 99.9% analytical sensitivity & >99% specificity for full gene coverage | Limited to known mutations; may miss novel or deep intronic variants |
| Methodology | NGS (Illumina platform) with Sanger confirmation of pathogenic calls | Targeted PCR and Sanger sequencing of selected hotspots only |
| Speed | 3 to 4 Weeks | 2 to 3 Weeks (but incomplete variant landscape) |
Physician Insight & Safety Protocols
โAs a Consultant Medical Geneticist, I emphasise that this BRAT1 gene test is a critical diagnostic tool for families facing unexplained neurodevelopmental delay with cerebellar involvement. A confirmed pathogenic variant allows for precise genetic counselling, recurrence risk assessment, and targeted management strategies including seizure surveillance and developmental therapies. The result must always be interpreted alongside clinical findings and neuroimaging to guide the family's journey with clarity and confidence.โ
โ Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Pre-Test Advisory & Medication Safety
โ ๏ธ Medication Warning: Maintain all prescribed anti-epileptic and neurological medications exactly as directed by your treating physician. Abrupt discontinuation may provoke severe breakthrough seizures or status epilepticus. Any medication adjustments must be managed under direct medical supervision.
Pre-Test Requirements
- Clinical History: Provide a detailed referral letter from your neurologist describing developmental milestones, MRI findings (cerebellar atrophy), and seizure semiology.
- Genetic Counselling: A mandatory pre-test genetic counselling session (in-clinic or telehealth) to draw a pedigree chart of family members affected by neurodevelopmental issues, cerebellar atrophy, or seizures.
Exclusion Criteria & Clinical Red Flags
- Exclusion: Individuals without a clinical indication documented by a Neurologist, Medical Geneticist, or PhD Researcher. Minors require guardian consent as per Federal Decree-Law No. 4 of 2016 on Medical Liability.
- Exclusion: Poor DNA quality from inappropriate sample (non-FTA/cellular degradation); recollection will be arranged.
- Seek Emergency Care if: You or your child develops new-onset prolonged seizures (>5 minutes), loss of consciousness, or acute worsening of ataxia before results consultation.
Patient FAQ & Clinical Guidance
1. What exactly does the BRAT1 NGS test detect, and who should consider it?
This test identifies pathogenic mutations in the BRAT1 gene, which cause a severe neurodevelopmental disorder marked by cerebellar atrophy and variable seizures. It is indicated for infants and children with unexplained global developmental delay, particularly when brain MRI reveals cerebellar atrophy. The test is ordered by neurologists and medical geneticists when clinical features suggest BRAT1-related syndrome. Early genetic diagnosis enables targeted seizure management, developmental interventions, and accurate family counselling regarding recurrence risks.
2. How reliable are the results, and what do the ISO accreditations mean for my family?
With 99.9% diagnostic sensitivity and ISO 9001:2015 certified laboratory workflows (Cert: INT/EGQ/2509DA/3139), every report meets the highest international quality and reliability standards. Each pathogenic call is confirmed by orthogonal Sanger sequencing, and the laboratory participates in external quality assessment schemes. This accreditation ensures that your family receives a clinically actionable result with documented precision, enabling confident medical decisions based on robust genomic data.
3. Can I arrange at-home sample collection in the UAE, and what does the service include?
Yes, we provide DHA-licensed VIP Mobile Phlebotomy across all Emirates from 8 AM to 11 PM, ensuring temperature-controlled cold-chain transport and a stress-free experience for your child. Simply WhatsApp +971 54 548 8731 to schedule. Our mobile team arrives with all necessary equipment, maintains sample integrity from collection to laboratory delivery, and coordinates directly with our ISO-certified genomic facility. This service is available for whole blood, extracted DNA, or FTA card specimens.
UAE Regulatory & Data Privacy Adherence
Data Protection & Legal Compliance Framework
- Personal Data Protection: This service strictly adheres to Federal Decree-Law No. 45 of 2021 on Personal Data Protection (PDPL). All genetic data is encrypted and stored within the UAE.
- Health Information Governance: Compliant with Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields, ensuring secure handling of electronic health records.
- Clinical Safety & Consent: Patient consent and medical liability protocols follow Federal Decree-Law No. 4 of 2016 on Medical Liability.
- ISO 9001:2015 Certification: Certified by INT/EGQ/2509DA/3139. Laboratory and processes audited for quality management.
Clinical & Logistical Metadata
| Test Name | BRAT1 Gene Neurodevelopmental Disorder with Cerebellar Atrophy and with or without Seizures Genetic Test |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type / Matrix | Whole Blood (3โ5 mL EDTA), Extracted DNA (min 2 ยตg), or FTA Card |
| Methodology Used | Next-Generation Sequencing (NGS) with Sanger Confirmation |
| ICD-10-CM Code | G93.89, G40.909, Q04.8 |
| LOINC Code | 77186-9 |
| DHA Facility License & Laboratory Address | License: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE |
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ISMS 27001:2022
ISO Accredited
HIPAA
All reports reviewed by DHA-Certified physicians