Exome studies involve a method for selecting and sequencing exclusively the codifying regions of the genome (genes through which proteins are expressed). This approach is a simpler and less expensive, yet effective, alternative to whole genome studies. This test sequences the approximately 20,000 genes that make up the human genome in search for mutations associated with the development of disorders and diseases. Since this approach searches all codifying regions, B_Platform allows us to offer healthcare professionals focus on specific variants of their choosing without the need to select specific gene panels in advance. WES replaces studies focusing on individual genes and gene panels, providing a more versatile diagnostics tool that is indispensable in the identification of rare diseases.
After receiving the case from a patient or a healthcare professional, our team independently evaluates the feasibility of the analysis requested.
After accepting the case, Bitgenia's team makes sure all parties are appropriately informed of the procedures, obtaining the respective consent forms and designating a lab where healthcare professionals will take the sample. DATA STORAGE
Once received from the lab, one of Bitgenia's trusted partners sequences the sample using Next Generation Sequencing (NGS) technology.
The genetic sequence data supplied by our partner is put through B_Platform, Bitgenia´s proprietary genomics analytic tool, to determine the impact potential of genomic variants for the patient.
Genomic data is aggregated with previous cases into our database, allowing for relevant statistical analysis, as well as a strict quality control over procedures and results.
Our specialized team generates a report based on the processed information obtained using B_Platform. The reports are then provided to the healthcare professional to be used in the diagnosis process.