A 29 year-old Ashkenazi Jewish woman completed pre-pregnancy carrier screening and was found to be a carrier for Tay-Sachs and Spinal Muscular Atrophy (SMA). In order to determine if her husband was a carrier for Tay-Sachs, his doctor ordered testing to check his...
A primary care doctor referred a 39-year-old Ashkenazi Jewish woman for genetic counseling because of a known familial BRCA2 variant. The patient was also undergoing egg retrieval for in vitro fertilization and had told her doctor she would consider pre-implantation...
A 35-year-old man sought out genetic counseling because his mother had a pathogenic variant in MSH6. The patient’s family history also revealed a paternal relative with pancreatic cancer which, in addition to his Ashkenazi Jewish ancestry, prompted the GC to...
During a routine gynecogical appointment, a young woman reported that her paternal grandmother, was diagnosed with early-onset breast cancer and still living. Based on this family history, the gynecologist ordered a genetic testing that included multiple genes to...
A 51-year-old female pursued genetic testing because she thought her mother was diagnosed with ovarian cancer at age 30. After the testing was ordered by the patient’s gynecologist, the patient realized her mother actually had cervical cancer, not ovarian. The test...
