Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2004) / 임상검사와정도관리

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 2004. Cytogenetic surveys were performed by 36 laboratories and answered correctly in most laboratories except some problems in karyotype nomenclature, interpretation of FISH test results and the detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetic test surveys included may kinds of tests like M. tuberculosis, HBV, HCV, HPV, leukemias/lymphomas, ApoE genotyping, MTHFR genotyping, BRCA1 & BRCA2, Duchenne muscular dystrophy, and Huntington disease. Each molecular test for HCV, MTHFR genotyping, BRCA1 & BRCA2 analysis and Huntington disease was the first challenge in 2004. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2004 was proved to be helpful in continuous education and evaluation of quality improvement.