EPIDASD

EPIDASD stands for Epilepsy – Intellectual Disability – Autism Spectrum Disorder. At Amplexa Genetics our EPIDASD screening panel consists of 600 different genes related to these disabilities.


Epilepsy is a broad term covering several neurological conditions, common to all these is a disturbance of the neurological activity in the brain. These neurological disturbances may cover both small and larger areas of the brain and cause both epileptic seizures and periods of abnormal behavior; in some cases, the awareness of the individual is affected to such a degree that they are non-responsive. Epilepsy can both be congenital or acquired.


Intellectual disability, also known as general learning disability, is a neurological condition manifesting in early childhood. The condition often causes certain traits such as delayed or limited development of cognitive and physical abilities. This limited development might be manifested in impaired language, motor skills, cognitive abilities, and social skills.

Autism spectrum disorders are a group of neurological conditions that are seen in early childhood. These conditions are sometimes characterized by delayed milestones and impaired socializing, repetitive behaviors, and communication interactions.

PANEL CONTENT

Amplexa Genetics offers a screening solution for the described conditions with the EPIDASD panel consisting of 600 genes. The genes are based on clinical evidence, scientific publications, the Human Gene Mutation Database (HGMD), and Online Mendelian Inheritance in Men (OMIM).

 

The panel is evaluated and updated regularly. For more information on the panel's content, click on the GENLIST icon.

ANALYSIS TECHNIQUE

EPIDASD 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


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

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 study together with the receipt of a sample is considered an order to conduct the analysis.

 

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