scope:

FISH technology can be used to detect microdeletions that are not visible by standard cytogenetic banding patterns; it allows for the rapid determination of whether specific genes, loci, or regions are present or if deletions, amplifications, or other structural rearrangements have occurred. This unique ability of FISH technology provides strong justification for its diagnostic use in cancer, prenatal, postnatal, and other genetic diseases.

The methods and quality control approaches described in this guideline represent formal recommendations proposed for use by manufacturers, diagnostic laboratories, and regulatory agencies. Such use 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.

The MM7 guideline has been developed to ensure appropriate and reliable use of FISH technology in medical genetics laboratories and to provide useful recommendations for FISH assay developers, manufacturers, diagnostic genetic laboratories, and regulatory agencies. It is anticipated that this guideline will also be useful in implementing other types of assays that are becoming more frequently used in the medical genetics community.