Reporting of Diagnostic Cytogenetic Results

Curr Protoc Hum Genet. 2016 Apr 1:89:A.1D.1-A.1D.23. doi: 10.1002/0471142905.hg01ds89.

Abstract

This appendix, developed by the staff at the Center for Advanced Molecular Diagnostics in the Department of Pathology at the Brigham and Women's Hospital, includes a comprehensive list of current "macros" or standardized statements used to facilitate reporting of cytogenetic results. These are provided as a useful reference for other laboratories. The statements are organized under the general categories of constitutional or acquired abnormalities and subdivided into analysis type (GTG-banding, FISH, or chromosomal microarray). Multi-specimen usage macros are included that can be applied to two or more specimen types.

Keywords: clinical cytogenetics; diagnostic; reporting; test results.

MeSH terms

  • Abortion, Spontaneous / genetics
  • Chromosome Aberrations*
  • Chromosome Banding / methods
  • Chromosome Banding / standards
  • Cytogenetic Analysis / methods*
  • Cytogenetic Analysis / standards
  • Cytogenetics / methods
  • Female
  • Genetic Counseling
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • In Situ Hybridization, Fluorescence / standards
  • Male
  • Medical Writing / standards*
  • Prenatal Diagnosis / methods
  • Prenatal Diagnosis / standards*