Germline genetic testing utilizes next-generation sequencing or other technological methods to analyzes the genes inherited from one's mother and father. The goal of germline genetic testing is to identify future risks for cancer in the patient being tested as well as for other family members. These mutations can be passed down through families. Pathogenic germline variants allow providers to utilize different screening or risk reduction options for the patient to prevent or screen for cancer. Germline genetic testing is typically risk driven. Occasionally, germline mutations can also be targeted with specific treatments. When Lynch syndrome is diagnosed, it is always due to a germline mutation in one of the following genes: MHL1, MSH2, MSH6, PMS2, EPCAM

Sample types used: blood, saliva, normal tissue (I.e. skin fibroblasts)

Common labs: Myriad genetics, Ambry genetics, Invitae, ARUP, GeneDx