Test Price
2,800 AED✅ Home Collection Available
ATP6AP2 Gene NGS Test for X‑Linked Intellectual Disability & Epilepsy in UAE | 2,800 AED
Executive Summary & Core Metrics
Clinical Accuracy Guarantee: 99.9% diagnostic sensitivity achieved through ISO‑accredited next‑generation sequencing, fully aligned with current DHA and MOHAP neurogenetic standards.
- Premium Logistics: VIP mobile phlebotomy & temperature‑controlled cold‑chain home collection (available daily from 8 AM to 11 PM).
- Clinical Guidance: Telephonic post‑test result interpretation by certified genetic counsellors.
- Insurance: Direct billing verification via WhatsApp +971 54 548 8731 (instant response).
Test Overview & Methodology
The ATP6AP2 gene sequencing test identifies pathogenic variants associated with X‑linked intellectual disability and epilepsy. This advanced NGS analysis covers the entire coding region and splice‑site boundaries, delivering definitive molecular confirmation for affected males and carrier detection in females.
| Feature | Our Test (ATP6AP2 NGS) | Closest Alternative |
|---|---|---|
| Diagnostic Precision | Full gene sequencing (coding + splice sites); 99.9% sensitivity | Single‑variant analysis or limited panel – may miss rare mutations |
| Methodology | Next‑Generation Sequencing (NGS) – ISO‑validated pipeline | Sanger sequencing (targeted only) or multipanel NGS (broader but lower depth) |
| Turnaround Time | 3 – 4 weeks | 4 – 6 weeks (often delayed by reflex testing) |
| Sample Options | Whole blood, extracted DNA, or one‑drop FTA card | Blood only (venipuncture required) |
| Regulatory Compliance | DHA & MOHAP accredited, ISO 9001:2015 | Variable; not all UAE‑accredited |
Pre‑test Requirements
Before Sample Collection
A clinical history must be documented and a comprehensive pedigree chart of affected family members must be drawn. A pre‑test genetic counselling session (in‑clinic or virtual) is mandatory to discuss X‑linked inheritance implications and obtain informed consent. No special diet or fasting required; avoid supplements or medications that could interfere with DNA quality – you will be advised by our counsellor.
Physician Insight & Safety Protocols
“As a consultant medical geneticist, I emphasise that an ATP6AP2 variant must always be interpreted together with the patient’s clinical phenotype and family history. A negative result does not exclude other genetic or acquired causes; therefore, continue ongoing care with your specialist and never stop prescribed antiepileptic drugs without medical supervision.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA License 9294403
⚠️ Medication Warning
Do not discontinue or adjust prescribed medication (especially antiepileptics) without consulting your treating physician. Abrupt changes can provoke life‑threatening seizures.
Safety Exclusion Criteria & Emergency Red Flags
- Exclusion: Patients with uncontrolled acute illness or active infection should postpone sample collection until stabilised.
- Exclusion: Individuals unable to provide informed consent (or legal guardian consent for minors) cannot proceed; compliance with Federal Decree‑Law No. 4 of 2016 on Medical Liability and UAE PDPL is mandatory.
- Emergency Red Flags: If the patient experiences prolonged seizures (status epilepticus), severe ataxia, or sudden loss of consciousness, seek immediate medical help – this test is not an emergency diagnostic.
- Data Privacy: All genetic data is handled under Federal Decree‑Law No. 45 of 2021 (PDPL) with end‑to‑end encryption.
Patient FAQ & Clinical Guidance
1. What is the purpose of the ATP6AP2 gene test?
This test identifies pathogenic variants in the ATP6AP2 gene, which cause X‑linked intellectual disability and epilepsy. It provides a definitive molecular diagnosis for affected males and carrier status for females.
2. Who should consider this test?
Individuals with early‑onset epilepsy and intellectual disability of unknown cause, especially males with a family history suggestive of X‑linked inheritance. Female relatives of an affected male may also be tested for carrier status.
3. How are results interpreted and delivered?
Results are reported within 3 to 4 weeks and include a telephonic post‑genetic counselling session with a certified genetic counsellor. The report will classify variants as pathogenic, likely pathogenic, or benign according to ACMG guidelines.
UAE Regulatory & Data Privacy Adherence
Data Privacy & Compliance
This test is performed in full compliance with the UAE’s data protection and healthcare regulations. All patient data is processed 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. The laboratory operates under DHA License No. 1143 and is ISO 9001:2015 accredited. Your genetic information is encrypted and used solely for diagnostic purposes; it will not be shared without your explicit consent.
Clinical & Logistical Metadata
| Parameter | Details |
|---|---|
| Test Name | ATP6AP2 Gene NGS (X‑Linked Intellectual Disability & Epilepsy) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3 to 4 weeks |
| Sample Type / Matrix | Whole blood, extracted DNA, or FTA card. VIP mobile phlebotomy available. |
| Methodology Used | Next‑Generation Sequencing (NGS) covering entire coding region and splice‑site boundaries |
| ICD-10-CM Code | Z13.73 (Encounter for genetic testing for developmental disabilities) |
| LOINC Code | 79294-9 (Gene sequencing) |
| 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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