FOCAL CORTICAL DYSPLASIA
The most common etiology in medically refractory focal epilepsies in the pediatric population
FOCAL CORTICAL DYSPLASIA
Focal cortical dysplasia (FCD) is an abnormal formation of a focal area in the brain and represents the most common etiology in medically refractory focal epilepsies in the pediatric population.
The treatment of FCD depends on epilepsy severity and response to antiseizure medication. FCD may be treated with medication, occasionally with diet, or nerve stimulation. However, often surgical treatment is required, especially if the condition is due to a scar or other lesion in the brain.
Amplexa Genetics offers screening of the genes previously described as being involved in the development of focal epilepsy due to FCD. This panel is also relevant for the test of genetic mosaicism in brain biopsies from patients with focal epilepsy who have undergone surgical treatment. Somatic mosaic mutations have been seen in FCD type 2 in a significant subset of patients.
PANEL CONTENT
Amplexa Genetics offers screening solutions for the genes involved in the development of focal epilepsy due to focal cortical dysplasia. The panel consists of 17 genes and four new candidate genes. The genes are based on clinical evidence, scientific publications, Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Men (OMIM).
The panel is evaluated and updated regularly.
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.
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.
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.