What does 3billion test for?
Last modified: May 16, 2022

3billion sequences and analyzes a patient’s genome by whole exome sequencing to provide clinical-grade results on diseases-causing pathogenic variants that could explain a patient’s symptoms. With sequencing data not just from a select number of genes but from all protein-coding exon regions (34Mb) of ~20,000 genes, we are able to continuously update the patient’s results as new gene-disease associations are discovered and as variants are reclassified.

Given that each individual exome has 80,000 to 100,000 variants on average, figuring out which variant(s) are associated with the patient’s disease is key. We prioritize variants based on the ACMG Guidelines and our clinical team uses a symptom similarity score that is calculated based on the provided symptom information to determine which variant(s) are most likely associated with the patient’s disease.