What genetic conditions are the sperm donors routinely screened for?
All sperm donors routinely have a complete blood count (CBC) and a quantitative hemoglobin electrophoresis to screen for common hemoglobinopathies, such as thalassemia and sickle cell anemia. Donors also have DNA carrier testing for Cystic fibrosis (CF) and enzyme analysis to assess their risk to be carriers of Tay-Sachs disease. Carrier testing for CF and Tay-Sachs disease does not have 100% detection. However, negative results significantly lower a donor’s risk to be a carrier for these disorders. Additional genetic screening may be recommended and performed based on a donor’s ethnicity or family history. For example, all donors of Eastern European (Ashkenazi) Jewish descent will also have carrier testing for the following genetic disorders: Tay-sachs disease (by DNA and enzyme analysis), Canavan disease, Familial dysautonomia, Fanconi anemia (group C), Niemann-Pick disease (type A), Bloom syndrome, Gaucher disease, Mucolipidosis IV, Glycogen storage disease type 1a (GSD1a), and Mapl
