The clinical utility of genetic testing: lessons from inherited endocrine disorders. (#82)
There are 3 broad groups of genetic tests commonly used to diagnose inherited genetic disorders; those that detect gain or loss of large segments of DNA sequence (copy number variations or CNVs); those that detect change in the sequence of a single gene; and those that indirectly test gene expression. This paper will outline the technologies commonly used to detect CNVs (katyotype, FISH and array-CGH), detect DNA sequence changes (MLPA and related technologies, Sanger sequencing and massively parallel sequencing) and indirectly test gene expression (diagnostic immunohistochemistry). Clinical examples of families with inherited endocrine disorders will be used to illustrate issues related to the clinical utility of these technologies, as well as important pitfalls and limitations of genetic testing.