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Related terms: personalized medicine, companion diagnostics, molecular diagnostics.
To assist in the identification of genetic mutations in humans with implications regarding health and treatment decisions; to assist in the identification of pathogenic organisms.
The facility or testing laboratory should be contacted regarding specimen collection requirements. Possible specimen types include whole blood, buccal samples, and tissue samples.
Method: Methods are specific to the study of interest and preferred specimen type. Methods include polymerase chain reaction (PCR), immunohistochemical assay, DNA probe using fluorescence in situ hybridization (FISH), gene amplification using chromogenic in situ hybridization (CISH), cell culture with karyotyping. Absence of findings consistent with genetic abnormalities related to disease or the ability to metabolize medications normally.