The process begins with genetic counseling, collecting vital information from couples and individuals seeking testing to help determine the types of tests to be performed, conducting the tests, analyzing the results, and making recommendations.
The unit provides genetic testing to expectant mothers and couples, including first trimester testing for Down syndrome, amniocentesis, and chorionic villus sampling. Genetic counseling is offered on a variety of diseases, including fragile X, cystic fibrosis, Gaucher's disease, Canavan disease, Bloom syndrome, and Fanconi syndrome. Counseling is also available for pregnancies with worrisome ultrasonographic findings and for cases of in-utero exposure to medications and pollutants.
