Test Price
2,800 AED✅ Home Collection Available
ALDH7A1 Gene Pyridoxine-Dependent Epilepsy Genetic Test in UAE | 2800 AED
Executive Summary & Core Metrics
- Diagnostic Accuracy: 99.9% analytical sensitivity for ALDH7A1 variants via Illumina-based NGS, processed under ISO 9001:2015 (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP mobile phlebotomy & temperature-controlled cold-chain home collection available daily from 8 AM to 11 PM. Accepts whole blood, dried blood spot (FTA card), or extracted genomic DNA.
- Clinical Guidance: Post-test telephonic interpretation by a consultant medical geneticist, not just a raw report.
- Insurance Support: Direct billing verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The ALDH7A1 gene test uses Next‑Generation Sequencing (NGS) to detect pathogenic variants in the ALDH7A1 gene that cause pyridoxine‑dependent epilepsy — a rare, treatable neonatal/infantile seizure disorder. Early molecular diagnosis allows immediate high‑dose vitamin B6 therapy, preventing irreversible neurological damage.
| Feature | Our NGS Test | Closest Alternative (Sanger Sequencing) |
|---|---|---|
| Methodology | Full gene NGS (Illumina) – detects SNVs, indels, CNVs | Single‑variant or limited exon Sanger sequencing |
| Clinical Sensitivity | >99% for all reported pathogenic variants | Varies; may miss rare/novel variants outside targeted site |
| Turnaround Time | 3 – 4 weeks | 4 – 8 weeks (batched runs) |
Physician Insight & Safety Protocols
Lina Osama Zaki Quteineh (Consultant Medical Genetics, DHA ID: 9294403): “As a medical geneticist, I emphasize that timely genetic testing for pyridoxine‑dependent epilepsy can transform a child’s prognosis. A positive ALDH7A1 result directs high‑dose vitamin B6 therapy, which often prevents lifelong disability. However, always correlate with clinical presentation and EEG findings; a negative result does not rule out other genetic epilepsies.”
Advisory & Exclusion Criteria
- This test is not intended for emergency seizure diagnosis; for status epilepticus, seek immediate emergency care.
- Do not discontinue or adjust anti‑epileptic drugs before or after testing without direct medical advice.
- A positive result does not guarantee pyridoxine responsiveness; a therapeutic trial under medical supervision may be necessary.
- High‑dose vitamin B6 self‑medication without supervision can cause neurotoxicity; never initiate before genetic consultation.
- If the patient is on a ventilator or unstable, home collection is contraindicated; the specimen must be collected in a hospital setting.
Patient FAQ & Clinical Guidance
1. What is the ALDH7A1 gene test and who should consider it?
The ALDH7A1 gene test uses next‑generation sequencing to detect mutations causing pyridoxine‑dependent epilepsy, a treatable neonatal/infantile seizure disorder. This test is indicated for infants with early‑onset seizures unresponsive to standard anticonvulsants, children with unexplained recurrent seizures, and family members with a known ALDH7A1 variant.
2. How is the test performed and what are the sample requirements?
A simple blood draw, extracted DNA, or a dried blood spot on an FTA card is collected by a DHA‑licensed phlebotomist at your home. No fasting or medication changes are required; the sample is transported in an ISO‑certified cold‑chain container to our NGS facility.
3. How accurate are the results and what is the turnaround time?
Our NGS platform delivers 99.9% analytical sensitivity for single nucleotide variants and small insertions/deletions, with a report in 3 to 4 weeks. A positive result confirms the diagnosis, while a negative result does not exclude other genetic epilepsies, and further evaluation may be recommended.
UAE Regulatory & Data Privacy Adherence
- Full compliance 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.
- Clinical testing safety and patient consent governed by Federal Decree-Law No. 4 of 2016 on Medical Liability.
- All samples processed in a DHA-licensed facility (License No. 1143) under ISO 9001:2015 certification.
Clinical & Logistical Metadata
| Test Name | ALDH7A1 Gene Pyridoxine-Dependent Epilepsy Genetic Test |
| Price (AED) | 2,800 |
| Turnaround Time | 3 – 4 weeks |
| Sample Type / Matrix | Whole Blood, Dried Blood Spot (FTA card), Extracted Genomic DNA (gDNA) |
| Methodology Used | Next-Generation Sequencing (NGS) – Illumina platform, full gene analysis |
| ICD-10-CM Code | G40.42 |
| LOINC Code | 92736-3 |
| 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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