Sequencing the pathogenic gene region (G4500/CES)
Detecting mutations in 4,503 human pathogenic genes associated with approximately 6000 single-gene diseases
Diagnostic rate
Sensitivity
(248 mutations detected out of 249 mutations)
Specificity
Sensitivity and specificity were determined based on Oncospan reference standards (Horizon Discovery, UK). This is the database containing the most recognized mutations in the world currently, the number of mutations has a frequency of up to 25%, distributed over 143 different genes.
Genome analysis: WGS, WES, G4500/CES
Sequencing entire genomes (Whole Genome Sequencing, WGS): Analyse all 3 billion nucleotides of the human genome, including the exon-coding region (of about 22,000 genes) and the non-protein coding region - introns. Sequencing the entire coding region (Whole exome sequencing, WES): analyse only the protein-coding regions (exons) of about 22,000 genes. Although accounting for only 1% of the entire genome, 85% of pathogenic mutations occur in this coding region. Therefore, compared to WGS, WES is a more cost-effective and efficient method. CES (G4500): Unlike WES, CES only analyzes the coding regions of 4,503 genes instead of 22,000 genes. However, these are the most well-identified disease-related genes to date. Therefore, CES is the most economical method compared to WGS and WES but still ensures a high diagnosis rate.
Scientific evidence for the application of WGS, WES, CES in disease diagnosis and health care
Disease N Diagnosis rate Scientific Research Severe congenital developmental disorder in children 1133 40% Wright et. al. 2018 Children with neuromuscular disease 56 75 (gene panel) - 79% (WES) Schofield et. al. 2017 Children with complex neurological disorders with genetic predisposition 150 29.3% vs 7.3% had made a clinical diagnosis Vissers et. al. 2017 Children with suspected single-gene disorder 80 5 7.5% vs 13.75% had made a clinical diagnosis Stark et al. 2016 Paediatric patients/patients with complicated clinical manifestations, multiple lesions 145 54% (WES or trio WES) Dillion et. al. 2018
Applicable test candidates
Foetus/children/patient has non-specific clinical symptoms, especially for the following diseases:
Genetic consultation with our doctors
Besides you and your family before and after the test.
