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Epilepsy

Epilepsy

Our epilepsy panels are co-developed with leading centers and experts in epilepsy, and contain high impact genes making the panels clinically relevant.

In the field of epilepsy Amplexa Genetics currently offers several targeted Next Generation Sequencing (tNGS) panels. Select the area of interest in the tabs here below.

EPIDASD

EPIDASD stands for: Epilepsy – Intellectual Disability – Autism Spectrum Disorder.

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.

CHILDHOOD EPILEPSY PANEL – CHE110

This panel is developed for use in cases where early onset epileptic encephalopathy is suspected. Generally the earlier the age of onset the more likely it is that there is a genetic component. For neonatal onset of seizures, positive findings are made in approximately 60% of patients. The panel also contains genes for familial focal epilepsies and epilepsies with later age of onset of seizures.

The panel is frequently evaluated and updated. The current version includes 110 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.

 

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.

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 in the MTOR pathway.

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.

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.

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.