Case Example

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Clinical Scenario

You will now have an opportunity to apply your knowledge about genetic testing to the selection of the appropriate test for the patient described below. This scenario is representative of a clinical situation in which genetic testing is commonly misordered. It requires an understanding of the benefits and limitations of 3 different genetic testing methodology options.

Case Introduction: Rebecca is seeing you as a new obstetrics patient today. This is her first pregnancy, and she is currently about 6 weeks' gestation. In reviewing her screening form, you learn that she is a 28-year-old, healthy, Ashkenazi Jewish woman with no family history of congenital anomalies or known inherited disorders. Based on ACOG recommendations, you realize that she should minimally be offered carrier screening for Tay-Sachs disease, Canavan disease, familial dysautonomia and cystic fibrosis, although there are additional carrier tests for conditions common in the Ashkenazi Jewish population that should be considered. When investigating the tests available at the laboratory you use most commonly, you learn that there are 3 different carrier-screening tests for Tay-Sachs (hexosaminidase A deficiency) from which to choose. The laboratory provides you with the following information about each of the tests.