CHILDHOOD EPILEPSY
The Childhood Epilepsy Panel is relevant in cases where epilepsy is the primary symptom.25% of epilepsy cases have their debut in childhood, especially early childhood. The Childhood Epilepsy Panel includes more that 100 genes involved in the development of epilepsy with early onset, epileptic encephalopathy, or developmental epileptic encephalopathy.The panel is evaluated and updated frequently. The current version contains 110 genes.TEST SPECIFICATIONS
The test is performed as data extract (virtual targeted panel) from whole exome data.
Chemistry: Twist Biosystems Human Core Exome
Hardware: Illumina Novaseq 6000 Sequencer
Data processing: Variant calling and filtering is performed with an in-house bioinformatic pipeline.
Metrics: Average read depth >100-fold. On target coverage >97% at a >20-fold read depth
Terms.
By ordering an analysis at Amplexa Genetics A/S, the requester confirms to have obtained the necessary informed consent for the performance of the requested analyses, and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition or an e-mail stating the specific analysis together with the receipt of a sample is considered an order to conduct the analysis.
From the day of order receipt the turn around time is 5 weeks.
