Home Sequencing Instrumentation Mapping Bioinformatics Functional Genomics ELSI Research Recent Abstracts US,Intl. This Site Search Web pages plus publications Contact Us Privacy Statement Site Stats and Credits Considerations include test quality, the potential usefulness of the information the test provides, available preventive or treatment options, and social issues. Need to consider test results in the context of mutation variability , gene penetrance , and gene expressivity .
Mutations can be in the same or different genes.
Mutation tests often test for only the most common mutations. Current tests are for about 70 common mutations. Incomplete penetrance - an individual with a mutation may never get the disease. Some mutations are completely penetrant - an individual with the mutation always gets the disease. Severity can vary widely for some diseases, and few specific mutations have been correlated with the severity of their expression in an individual.