High-throughput sequencing technologies, such as Whole Exome or Genome Sequencing (WES/WGS), allow for the identification of disease-causing DNA variants with a single assay.
As the cost of these approaches continues to decline, WES/WGS will soon become routine diagnostic procedures. Currently, WES/WGS are only performed in dedicated labs without access to detailed patient information. Most of these labs are using software without CE certification, which will be legally required beginning 05/2022.
Medical doctors can provide relevant information about the patient’s phenotype, which allows the software to focus on variants in genes likely to cause the disorder.
The software analyses raw data from DNA sequencers, detects variations from the reference genome and predicts their pathogenicity, even without a clinical diagnosis.
MutationSearch will automatically print a report with all information necessary for physicians for a molecular diagnosis.