EPIDASD

This panel is relevant for autisme and autism spectrum disorders with and without epilepsy as well as mental retardation, intellectual disability and combinations thereof. The panel includes all genes from Amplexa’s other neurological tests (Childhood Epilepsy, Progressive Myoclonic Epilepsy and Brain Malformation).

The panel is frequently evaluated and updated. The current version includes 600 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.