What is the sensitivity and specificity of the test?
Last modified: July 21, 2022

There are two ways to measure sensitivity/specificity of the Whole Exome Sequencing test: analytically and clinically. Following guidelines from College of American Pathologists (CAP), we performed a comprehensive assay validation studies. Analytical specificity and sensitivity were estimated to be 99.99% and 99.13%, respectively and clinical specificity and sensitivity were both estimated to be >99.99%. However, as it is not possible to test for clinical specificity and sensitivity for every single disease-causing variant of every single disease-causing gene, an alternate way to estimate the clinical sensitivity is to determine the likelihood of identifying a disease-causing variant in one of the well-established disease-causing genes using the test. Our Whole Exome Sequencing test generates at least 20x depth-of-coverage across 98.8% base positions of the protein-coding region of ~4,400 well-established disease-causing genes for rare genetic disorders. It needs to be noted though that disease-causing variants can reside outside the protein-coding regions and as the genetics community builds more knowledge on the extent of these variants, the clinical sensitivity will be adjusted accordingly.