FirstDx is the advanced Whole Exome Sequencing (WES) solution offered by First Genomix. It is a highly efficient, comprehensive, rapid, and reliable diagnostic test performed to determine the nucleotide sequence of the protein-coding regions (known as exome) of an individual’s genome, in order to identify mutations in the DNA that are causative or relevant to the person’s health-related concerns.
FirstDx by First Genomix is recommended in the following cases:
FirstDx constitutes a fast, accurate, and cost-effective tool for unveiling the genetic etiology of rare diseases. To date, more than 10,000 rare diseases have been identified, 80% of which are estimated to have a genetic basis. The protein-coding regions of the human genome contain nearly 85% of the known disease-causing mutations. This makes FirstDx a highly effective diagnostic tool that can provide actionable molecular insights for empowering accurate disease diagnosis.
The FirstDx test report contains information about the variants relevant to the patient’s indication for testing. In addition, and if consented, disease-causing variants in the carrier screening genes (2800 genes) and/or the 78 genes* recommended by the American College of Medical Genetics and Genomics (ACMG) can also be included in the report.
* These genes are associated with actionable conditions where preventive measures can be taken to mitigate the onset or severity of the clinical outcome. These genes are associated with late-onset conditions such as cardiovascular diseases and cancer.
Furthermore, based on the genetic testing results, the report may include recommendations to help support clinical decisions.
As part of our commitment to improving clinical outcomes for patients and enhancing their healthcare experience, our patient-centric support at First Genomix continues even after reports have been issued. For every FirstDx (Whole Exome Sequencing) case, patients are entitled to receive the following:
