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Progressive Myoclonic Epilepsy

Progressive Myoclonic Epilepsy – PME11

This panel is developed for use in cases where Progressive Myoclonic Epilepsy is suspected.

The panel is frequently evaluated and updated. The current version includes 11 genes.

Genes list

Name OMIM Inheritance

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.

 

The test can not detect the dodecamer expansion in the CSTB gene leader region.

 

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.

Accreditation

Accreditation

ISO 15189 accredited test

This test is DS/EN ISO 15189:2013 accredited under DANAK exam number 1023.