Profiles in Genetics
Whole-exome sequencing offers a new level of genetic testing, but the test results require significant time and expertise to interpret. The results can frequently be difficult to communicate, both for technical reasons and because of the impact on the patient and family.
In this two-part “Profiles in Genetics” presentation, Lea Coon, C.G.C., walks you through the information that you need to correctly select testing for hemophilia A or B.
McKinsey Goodenberger, M.S. C.G.C., a Mayo Clinic Genetic Counselor, provides an overview of the tests available for prenatal diagnosis. From FISH to molecular studies, she discusses the appropriate specimen types, the time required for analysis, and the level of information provided by the various tests.
The development of dried blood spot (DBS) testing was a significant improvement in testing for infants. The specimen volume is much smaller and the dried blood spot specimen offers excellent stability when properly air dried. Today, DBS testing is no longer limited to infants, and is also available for adult patients.