WES examination is recommended when previous diagnostic tests have been unsuccessful and when fast diagnosis is of crucial importance. The test is particularly recommended when there is a suspicion that a health problem may have a genetic basis.
The Whole Exome Sequencing (WES) test is an examination of the entire exome, which is the coding sequence of all human genes – 24,000 genes. The test can detect pathogenic, probable pathogenic, and variants of unknown significance (VUS) within exons, the mitochondrial genome, as well as CNV variants.
Genetic testing of the patient’s exome along with in-depth bioinformatics analysis and interpretation of the results by a clinical geneticist. The test includes the sequencing of exome of one patient in accordance with the standards of the Broad Institute (MIT, Harvard). At IMAGENE.ME, we use the latest DNA sequencing technology – Next Generation Sequencing (NGS). WES testing is performed using NovaSeq 6000 (Illumina).
At IMAGENE.ME the results of the test are consulted with a clinical geneticist who will make personalized recommendations for further diagnostic and therapeutic management.
- Self-sampling kit
- Medical Report – a description of the most significant genetic variants that may be associated with the diagnosed disease or any disturbing symptoms.
- A set of additional information, including a description of the impact of variants on the trait/disease, diagnostic and therapeutic recommendations, indications of potential support groups.
- Genetic testing of the exome of the affected person with in-depth bioinformatics analysis and interpretation of the results by a clinical geneticist.
- The study includes sequencing of the exome of 1 patient person according to Broad Institute (MIT, Harvard) standards.
- We use a proprietary WESEXT method that allows simultaneous analysis of pathogenic variants within exons, introns and promoters of genes and in mitochondrial DNA.
- Interpretation of the result is performed in a multi-layered manner, involving advanced gene prioritization algorithms based on the clinical picture of the patient (proband) and information contained in more than 100 databases, as well as personalized gene panels. Interpretation is performed with a phenotype as well as genotype priority approach.
- Pathogenicity of detected variants is classified according to internationally recognized standard – ACMG/AMP criteria (Richards et al., 2015) and current ClinGen and ACGS recommendations.
- In addition, genome fragment copy number variation (CNV) analysis is performed on each patient. CNV testing allows the diagnosis to be expanded to include abnormalities in the structure of larger fragments of genetic material (deletions and duplications). Classification of identified CNV changes is performed according to the world standard according to ClinGen (Riggs et al., 2020).
- We also perform pharmacogenomic analysis, with respect to current or past pharmacotherapy, in accordance with the recommendations of leading world institutions: PharmGKB, PharmVar, PGRN, CPIC and FDA.