Carrier screening panels for Ashkenazi Jews: is more better?
PURPOSE: To describe the characteristics of Ashkenazi Jewish carrier testing panels offered by US Laboratories, including what diseases are included, the labels used to describe the panels, and the prices of individual tests compared to the prices of panels for each laboratory. METHODS: GeneTests (http://www.genetests.org) was searched for laboratories that offered Tay-Sachs disease testing. Information was obtained from laboratory web sites, printed brochures, and telephone calls about tests/panels. RESULTS: Twenty-seven laboratories offered up to 10 tests. The tests included two diseases associated with death in childhood (Niemann-Pick type A and Tay-Sachs disease), five with moderate disability and a variably shortened life span (Bloom syndrome, Canavan disease, cystic fibrosis, familial dysautonomia, Fanconi anemia, and mucolipidosis type IV), and two diseases that are not necessarily disabling or routinely shorten the lifespan (Gaucher disease type I and DFNB1 sensorineural hearin