Chapter 10 Molecular Diagnosis

Keypoints Identification of the gene for a disorder permits diagnostic testing by direct mutation analysis. Some genetic disorders are associated with a wide range of allelic heterogeneity. Genetic testing may reveal variants of unknown significance that require special care in interpretation. Molecular genetic tests are often first developed in research laboratories, but clinical testing requires transfer of the test to a certified clinical laboratory.

Keypoints Genetic linkage analysis can be used to track a genetic trait through a family if the responsible gene is not known or mutations cannot be easily identified. Genetic tests can be evaluated in terms of analytic validity, clinical validity, and clinical utility. Genetic tests raise a number of potential ethical issues that should be considered in deciding to initiate testing.