FOCAL CORTICAL DYSPLASIA
Focal epilepsies are characterized by seizures arising from specific part of the brain. Focal seizures account for about 60% of all epileptic seizures.Focal epilepsy may be treated with medication, and occasionally with diet, nerve stimulation or surgery. Especially if the condition is due to a scar or other lesion in the brain.The panel consists of 17 genes previously described as being involved in the development of focal epilepsy due cortical dysplasia. In addition, the panel contains 4 new candidate genes.
This panel is relevant in cases with focal epilepsy and for test of genetic mosaicism in brain biopsies from patients with focal epilepsy who have undergone surgical treatment. The panel is evaluated and updated frequently. The current version contains 21 genes.
TESTSPECIFICATIONS
- Chemistry: Twist Biosystems custom panel
- Hardware: Illumina Novaseq 6000 Sequencer
- Data processing: Variant calling and filtering is performed with an in-house bioinformatic pipeline.
- Metrics: Average read depth >1000-fold. On target coverage ~100%. With >1000-fold read depth mosaicism down to a 1% level can be detected.
Terms.
By ordering an analysis at Amplexa Genetics A/S, therequester confirms to have obtained the necessary informed consent for theperformance of the requested analyses, and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition oran e-mail stating the specific analysis together with the receipt of a sampleis considered an order to conduct the analysis.
From the day of order receipt the turn around time is 5 weeks.
