Sean and Sharon had an idyllic first pregnancy. Their son, born in March 2016, was a healthy baby boy. Due to a family history concern, the couple had asked for genetic testing during this pregnancy. They ended up having sequential screening, which looks for...
Ever since high school, Jonathan Katz wanted to undergo genetic testing. Jonathan is of Eastern European Jewish descent and was aware of the increased frequency of certain genetic conditions in people of Jewish ancestry. Jonathan’s brother eventually introduced him to...
What is Hereditary Breast and Ovarian Cancer syndrome? While most cancer happens by chance (i.e. sporadic), about 5-10% of cancers are caused, in part, by inheriting a genetic variant from a parent that increases the risk for certain cancers over a person’s lifetime....
Spinal muscular atrophy (SMA) is a severe, neuromuscular disease that over time leads to the inability to walk, eat, or breathe. SMA is the leading genetic cause of infant death. The condition is inherited in an autosomal recessive manner, meaning those with the...
Sickle cell disease (SCD), also called sickle cell anemia, is one of the most common and well-known genetic disorders globally. Preimplantation genetic testing (PGT), in combination with in-vitro fertilization (IVF), provides families with the opportunity to test...
