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...
BRCA-Related Breast and/or Ovarian Cancer syndrome is a hereditary cancer syndrome caused by pathogenic variants in the BRCA1 and BRCA2 genes. It results in increased risk for breast, ovarian, prostate, and pancreatic cancers and possibly melanoma. Experts believe...
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...
Partnership Will Offer Genetic Services to All Cancer Patients JUPITER, Fla., Jan. 25, 2024 /PRNewswire-PRWeb/ — Jupiter Medical Center (JMC), a leading, not-for-profit medical center in Florida, today announced it will begin providing...
