This page is part of the Genetic Reporting Implementation Guide (v0.3.0: STU 1 Ballot 2) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

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 to automated differential image analysis of DNA bound to fluorescent markers.

This implementation guide defines a single computable genetic finding profile: Copy Number Change.

TODO - detailed explaination of these observations