scope:

This document addresses fluorescence in situ hybridization methods for medical genetic determinations, identification of chromosomal abnormalities, and gene amplification. Recommendations for probe and assay development, manufacture, qualification, verification, and validation; instrument requirements; QA; and evaluation of results are also included. The guideline is intended to facilitate the reproducible production of FISH assays and the interlaboratory comparison of results and diagnostic interpretations, as well as to ensure accuracy in diagnosis.

This document is intended for use by laboratories that develop tests based on commercially manufactured and laboratory-developed FISH probes. Unlike the previous edition, this revised guideline does not specifically address issues associated with the manufacturing of FISH probes or in vitro diagnostic (IVD) devices based on FISH technology. Nevertheless, manufacturers may find value in the principles of FISH testing presented in this guideline and in better understanding how their products will be used by laboratories.