PRICKLE2 Gene Progressive Myoclonic Epilepsy Type 5 Genetic Test in UAE | 2800 AED

Executive Summary & Core Metrics

Test Overview & Methodology

The PRICKLE2 gene test identifies pathogenic variants in the PRICKLE2 gene associated with progressive myoclonic epilepsy type 5, an autosomal recessive neurological disorder characterized by myoclonus, generalized seizures, and progressive neurodegeneration. This advanced NGS (Next Generation Sequencing) assay provides definitive molecular confirmation, guiding personalized treatment and family planning.

Physician Insight & Safety Protocols

Patient FAQ & Clinical Guidance

1. What does the PRICKLE2 genetic test detect, and how accurate is it?

This test uses next-generation sequencing to identify pathogenic mutations throughout the entire PRICKLE2 coding region and splice sites with 99.9% analytical sensitivity. It detects single nucleotide variants, small insertions/deletions, and copy number variations, with results validated by MLPA and reported according to ACMG guidelines, providing a definitive molecular diagnosis for EPM5.

2. Can this test be performed on children, and what are the legal requirements?

Yes, the test is available for children under UAE law. Informed consent from a legal guardian is mandatory, and a pediatric neurologist or clinical geneticist will evaluate the child beforehand. Blood collection uses a minimally traumatic single drop on an FTA card. All results are encrypted and stored per Federal Decree-Law No. 45 of 2021 on Personal Data Protection and Federal Law No. 2 of 2019 concerning health ICT.

3. How soon will I receive my results, and who will explain them?

Results are ready within 3–4 weeks. A DHA-licensed genetic counsellor provides a 30-minute telephonic interpretation session, translating complex findings into actionable steps. No result is released without a physician’s review. The report includes variant classification, clinical significance, and recommendations for family screening. Urgent findings are prioritized.

4. What sample types are accepted, and how should I prepare?

Accepted specimens: whole blood (EDTA tube), extracted DNA, or a single drop of blood on an FTA card. No special preparation is needed, but a detailed clinical history of progressive myoclonic epilepsy symptoms and a three-generation pedigree chart are required to ensure accurate interpretation. Genetic counselling is mandatory prior to testing.

UAE Regulatory & Data Privacy Adherence

Clinical & Logistical Metadata