General

Synonym/Acronym:
Related terms include personalized medicine, precision medicine, companion diagnostics, molecular diagnostics.

Rationale
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.

Patient Preparation
There are no food, fluid, activity, or medication restrictions unless by medical direction.

Normal Findings
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), next-generation sequencing (NGS), multiplex sequencing assays, and cell culture with karyotyping. Absence of findings consistent with genetic abnormalities related to disease or the ability to metabolize medications normally.

Critical Findings and Potential Interventions
N/A