What is congenital adrenal hyperplasia? Congenital adrenal hyperplasia (CAH) is an inherited hormone disorder that affects children and adults worldwide. The most common form of CAH is estimated to occur in 1 in 15,000 newborns and is the type discussed here. In...
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...
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...
What is sickle cell disease? Sickle cell disease (SCD), also called sickle cell anemia, is a common inherited blood disorder that affects men and women across the world. Most often, SCD occurs in people of African, Middle Eastern, Mediterranean, Indian, Caribbean,...
What is Smith-Lemli-Opitz syndrome? Smith-Lemli-Optiz syndrome (SLO) is an inborn error of cholesterol metabolism that results from the reduced activity or absence of the enzyme 7-dehydrocholesterol reductase. This enzyme controls the last step in the formation of...
