Reporting of diagnostic cytogenetic results

Area of Science:

• Clinical Cytogenetics
• Genetics
• Laboratory Medicine

Background:

• Cytogenetic result reporting requires standardized language for clarity and consistency.
• Clinical laboratories often develop internal shorthand or macros to expedite reporting.
• Sharing these resources can improve inter-laboratory communication and efficiency.

Purpose of the Study:

• To provide a comprehensive reference list of standardized statements (macros) for reporting cytogenetic results.
• To facilitate consistent and efficient reporting of cytogenetic findings across different laboratories.
• To offer a resource for other clinical cytogenetics laboratories.

Main Methods:

• Development of standardized statements by the staff at the Clinical Cytogenetics Laboratory, Brigham and Women's Hospital.
• Organization of statements into general categories: constitutional and acquired abnormalities.
• Subdivision of statements by analysis type: GTG-banding and Fluorescence In Situ Hybridization (FISH).
• Inclusion of multi-specimen usage macros applicable to two or more specimen types.

Main Results:

• A comprehensive list of current macros for reporting cytogenetic results has been compiled.
• Macros are categorized for constitutional and acquired abnormalities.
• Statements are differentiated based on analysis type (GTG-banding, FISH).
• Macros designed for multi-specimen analysis are included.

Conclusions:

• The provided appendix serves as a valuable reference for clinical cytogenetics laboratories.
• Standardized macros can enhance the efficiency and consistency of cytogenetic reporting.
• This resource promotes best practices in laboratory medicine and genetic diagnostics.