Genome DX genomic diagnostic test

Genome DX – the myGenome test with diagnostic interpretation.

This test involves whole genome sequencing to identify health disorders believed to have a genetic origin. Genome DX is intended for patients with complex health histories or symptoms that suggest a possible genetic disease, even when other genetic tests have returned negative results. Patients may discover genetic changes that explain their symptoms. These results can influence decisions on treatment and medical care and impact other family members.

Indications for performing the Genome DX test: symptoms suggesting a genetically determined health disorder; complex personal and/or family health history; symptoms affecting more than one system in the body; symptoms that cannot be easily explained as one known genetic disorder; patient's experience of a "diagnostic odyssey" – suspected genetic diseases but previous genetic test results are negative, yet whole exome or whole genome testing has not been performed.

Sample: saliva.

Processing time after entering the laboratory: 14-16 weeks.