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Genetic diagnostics (GDx) analyze the genetic sequence of an individual to determine genotype and identify genetic variation known to be related to disease, it's prognosis, drug response, and other heath states. [1]

Advances in high-throughput DNA sequencing and assay technologies warrant distinguishing between genetic diagnostics employing older, more trusted but lower-throughput techniques and newer high-throughput diagnostics. The former may generally be referred to as genetic tests and the latter as genomic tests.


  1. Secretary's Advisory Committee on Genetics, Health, and Society: SACGHS Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests. Accessed 13 March 2010 at http://oba.od.nih.gov/oba/SACGHS/SACGHS%20Patents%20Report%20Approved%202-5-20010.pdf


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