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Focal Cortical Dysplasia Mosaicism

Focal Cortical Dysplasia – Mosaicism

This panel is developed for detection of mosaicism in resected brain tissue. The tissue sample is deep sequenced (>1000 fold) and analysed for mosaicism in genes related to FCD.

The panel is frequently evaluated and updated. The current version includes 21 genes – 17 well defined FCD genes and 4 candidate genes.

Genes list

Name OMIM Inheritance

Test specifications

The test is performed as targeted panel with 21 genes.

  • 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, 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

This test is not part of the accredited workflow