This page is part of the Genetic Reporting Implementation Guide (v0.1.0: STU 1 Ballot 1) based on FHIR v3.3.0. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

1.4 Cytogenomic Reporting

Work in Progress icon The content in this section has not undergone work group review and may be significantly revised prior to the next ballot.

This section provides guidance on reporting the results of cytogenetic testing. This refers to tests related to the optical analysis of a specimen's DNA. This includes direct examination of chromosomes under high magnification and examining chromosomal bands using various staining techniques through to automated differential image analysis of DNA bound to fluorescent markers.

Diagram showing G-banding panel, FHISH panel and Chromosome Analysis Overall Interpretation

Figure 1: Cytogenomic Profiles

(Profile links: Descriptive Genetic Finding, Chromosome analsysis G-banding panel, Chromosome analsysis FISH panel, Copy Number Change )

This implementation guide defines two descriptive genetic findings related to cytogenomics: Chromosome analysis G-banding panel and Chromosome analysis FISH panel. It also provides a single computable genetic finding profile: Copy Number Change. Finally, it provides a single 'impact' observation: Chromosome Analysis Overall Interpretation

TODO - detailed explaination of these observations