FOCAL CORTICAL DYSPLASIA

Focal epilepsies are characterized by seizures arising from a specific part of the brain. Focal seizures account for about 60% of all epileptic seizures.

Focal epilepsy may be treated with medication and occasionally with diet, nerve stimulation, or surgery, especially if the condition is due to a scar or other lesion in the brain.The panel consists of 17 genes previously described as being involved in the development of focal epilepsy due to cortical dysplasia. In addition, the panel contains four new candidate genes.

This panel is relevant in cases with focal epilepsy and for the test of genetic mosaicism in brain biopsies from patients with focal epilepsy who have undergone surgical treatment.

PANEL CONTENT

The panel is evaluated and updated frequently. The current version contains 21genes.

Click on the gene list icon for information about Gene name - Gene ID - OMIM ID.

ANALYSIS TECHNIQUE

Focal Cortical Dysplasia Panel is performed using Next Generation Sequencing (NGS), an advanced technique that offers deep, large-scale deciphering of the genome. The technique has revolutionized genetics by enabling different approaches for high-throughput, scalable sequencing. Click on the icon for more information about NGS. 

BIOINFORMATICS

Panels may include both coding, non-coding, and regulatory regions of the genome, sequenced to a minimum depth of 20. Any coding regions are analyzed +/- 10 base pairs from the exon-intron boundary.

The data is analyzed and annotated with our state-of-the-art in-house developed computational pipeline, integrating high-tech machine learning algorithms with industry-standard software solutions to deliver the most comprehensive data analysis. Throughout the workflow, rigorous quality control steps ensure consistent, valid, and accurate results. A plethora of professional, curated databases are integrated into our pipeline, including, but not limited to, gnomAD, ClinVar, Omim, HGMD, RefSeq, and DBSNP, ensuring high confidence variant classifications. Furthermore, several prediction tools are integrated into the variant classification, such as SIFT, PolyPhen, MutationTaster, AION, SpliceFinder, etc. All quality assessment metrics are available upon request. In case of failure to acquire data from specific genomic target regions within a panel, you will be notified. Click on the icon for more information about BIOINFORMATICS. 

SAMPLE REQUIREMENTS

  • Blood (2-5 ml EDTA-blood)
  • DNA (minimum 3 µg)
  • Saliva (minimum 2mL)

TEST SPECIFICATIONS

Chemistry: Twist Biosystems custom panel

Hardware: Illumina Novaseq 6000 Sequencer

Data processing: An in-house bioinformatic pipeline performs variable calling and filtering calling.

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 studies and accepts Amplexa Genetics Terms and Conditions. A hard-copy requisition oran e-mail stating the specific analysis together with the receipt of a sample is considered an order to conduct the research.

 

From the day of order receipt, the turnaround time is five weeks.