진단유전학분과 신빙도조사 결과보고 (1999)

Abstract

The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2000. Cytogenetic surveys were performed by 30 laboratories and answered correctly in most laboratories except some problems in nomenclature and analysis for microdeletion syndromes and complex anomaly. Analysis with high resolusion banding for detection of subtle/cryptic abnormalities and karyotype nomenclature of ISCN have some problems to be improved. External quality assessment program for cytogenetic analysis could be helpful to give participants many chances of continuous education and interesting case materials.