Test Price
2,800 AED✅ Home Collection Available
EPM2A Gene Lafora Disease Genetic Test in UAE | 2800 AED | DHA Licensed
Executive Summary & Core Metrics
Advanced NGS-based genetic test for detecting pathogenic variants in the EPM2A gene causing Lafora disease (progressive myoclonic epilepsy type 2). Diagnostic sensitivity exceeds 99.9% through ISO-accredited sequencing (Cert: INT/EGQ/2509DA/3139).
- Accuracy Guarantee: 99.9% Diagnostic Sensitivity via ISO-accredited processing (Cert: INT/EGQ/2509DA/3139).
- Premium Logistics: VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection (Daily 8 AM – 11 PM).
- Clinical Guidance: Telephonic Post-Test Clinical Guidance on result interpretation by a DHA-licensed medical genetics specialist.
- Insurance: Direct Billing Verification via WhatsApp +971 54 548 8731.
Test Overview & Methodology
The EPM2A gene test identifies pathogenic variants causing Lafora disease (progressive myoclonic epilepsy type 2) using high-coverage Next-Generation Sequencing (NGS). Full gene sequencing combined with deletion/duplication analysis covers 100% of coding regions, enabling detection of both common and novel mutations.
| Feature | Our NGS Test | Closest Alternative (Single-Gene Sanger) |
|---|---|---|
| Methodology | Full EPM2A gene sequencing + deletion/duplication analysis via NGS (100% coding regions) | Targeted mutation analysis only (limited to known hotspots) |
| Turnaround Time | 3–4 Weeks (fast-track available) | 4–6 Weeks |
| Diagnostic Yield | >95% for Lafora disease (detects novel variants) | ~70% (misses rare/private mutations) |
| Variant Interpretation | ACMG 2024 guidelines with in-house bioinformatics pipeline | Basic report, no functional prediction |
Physician Insight & Safety Protocols
“As a Consultant Medical Genetics specialist, I understand the profound impact a Lafora disease diagnosis has on families. This comprehensive NGS test provides a definitive molecular answer, enabling precise genetic counselling and informed clinical management. Results must always be correlated with neurological examination and EEG findings. Never alter or discontinue antiepileptic therapy without direct specialist oversight.”
— Lina Osama Zaki Quteineh, Consultant Medical Genetics, DHA Registration ID: 9294403
Advisory & Medication Safety
Do not discontinue or adjust any prescribed antiepileptic drug without consulting your treating neurologist. Abrupt cessation can provoke status epilepticus or severe seizure exacerbation. This genetic test is a diagnostic adjunct and does not replace urgent clinical evaluation.
Safety Exclusion Criteria & Emergency Red Flags
- Pre-test genetic counselling is mandatory – our team will schedule a session to draw a detailed family pedigree. No sample is collected without counselling completion.
- Patients must have a referral from a neurologist, clinical geneticist, or paediatric neurologist.
- Minors (below age 18) require written consent from both parents as per Federal Law No. 2 of 2019 Concerning the Use of Information and Communication Technology in Health Fields.
- Red Flags (go to ER immediately, do not wait for test results): new onset of myoclonic jerks with loss of consciousness, prolonged confusion, head injury during seizure, or any status epilepticus lasting >5 minutes.
Patient FAQ & Clinical Guidance
1. What exactly does the EPM2A gene test diagnose and why is it ordered?
Answer: The test identifies pathogenic variants in the EPM2A gene, confirming a diagnosis of Lafora disease (progressive myoclonic epilepsy type 2). It is ordered when a patient exhibits hallmark symptoms—such as myoclonic seizures, cognitive decline, and ataxia—to enable precise genetic counselling and management planning.
2. How is the sample collected and how long does it take to get results?
Answer: A simple blood draw is collected by our DHA-certified mobile phlebotomist at your home via temperature-controlled cold-chain logistics. The total turnaround time is 3–4 weeks from sample receipt, with results delivered through a secure online portal.
3. Is this covered by UAE health insurance and how do I verify?
Answer: Most UAE insurers cover genetic testing for neurological disorders when pre-authorised. Our team provides direct billing verification—simply send your insurance card via WhatsApp to +971 54 548 8731, and we will confirm coverage within 2 hours.
4. Will the test detect all known mutations in the EPM2A gene?
Answer: Yes. Our NGS platform sequences 100% of the coding regions and exon-intron boundaries of the EPM2A gene, detecting point mutations, small insertions/deletions, and copy number variations. This provides a diagnostic yield exceeding 95% for Lafora disease.
5. What happens if the test result is negative but symptoms persist?
Answer: A negative result does not rule out Lafora disease if clinical suspicion remains high. In such cases, our genetics team may recommend reflex testing for the NHLRC1 gene (EPM2B) or other progressive myoclonic epilepsy genes, and further consultation with a neurologist is advised.
UAE Regulatory & Data Privacy Adherence
Data Protection & Clinical Governance:
- All genetic data is processed in strict 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.
- Patient consent and clinical safety protocols adhere to Federal Decree-Law No. 4 of 2016 on Medical Liability.
- DNA Labs UAE is DHA-licensed (Facility License No. 1143) and ISO 9001:2015 certified (Cert: INT/EGQ/2509DA/3139), ensuring the highest standards of quality and confidentiality.
- All result reports are transmitted via encrypted channels; physical records are stored in secured access-controlled archives.
Clinical & Logistical Metadata
| Test Name | EPM2A Gene Lafora Disease Genetic Test (NGS) |
| Price (AED) | 2,800 AED |
| Turnaround Time | 3–4 Weeks (fast-track available) |
| Sample Type / Matrix | Peripheral Whole Blood (VIP Mobile Phlebotomy & Temperature-Controlled Cold-Chain Home Collection Available Daily 8 AM – 11 PM) |
| Methodology Used | Next-Generation Sequencing (NGS) – Full gene sequencing + deletion/duplication analysis, 100% coding region coverage |
| ICD-10-CM Code | G40.3 |
| LOINC Code | 21636-6 |
| DHA Facility License & Laboratory Address | DHA Facility License No: 1143 | Premises 105, Floor 1, Building 33, Dubai Healthcare City, Dubai, UAE | DNA Labs UAE |
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