The Probably Genetic Complete test can detect genetic conditions caused by disease-causing variants that occur in exons, the regions of the genome that encode for proteins, where single chemicals in the DNA have been changed, as well as insertions or deletions shorter than a certain number of base pairs, where sequences of letters are either inserted or removed from the genome. We only report on variants that are categorized as either “pathogenic” (i.e. those that may cause disease) or “likely pathogenic” according to the 2015 guidelines published by the American College of Medical Genetics and Genomics. Examples of conditions that can be related to the variants that we can detect include: Rett Syndrome, Angelman Syndrome, DDX3X Syndrome, MPS III, Brunner Syndrome, Raynaud-Claes Syndrome, and Tuberous Sclerosis. A full list of rare genetic and mendelian conditions that can be detected with whole exome sequencing can be found here and here. Note that we do not report on genetic variants for which not enough information is available to determine if they are pathogenic.
What conditions can the test detect?
