Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2005) / 임상검사와정도관리

ABSTRACT

Diagnostic genetics subcommitee of KSQACP has performed two trials each for cytogenetic studies and molecular genetic studies in 2005. Cytogenetic surveys were performed by 37 laboratories and answered correctly in most laboratories. And the first trial with whole blood specimen from the patient with cytogenetic abnormality (mosaic Turner syndrome) was successfully done, which could evaluate the whole process for cytogenetic studies from cell culture, harvest and karyotyping.. The molecular genetic test surveys included many kinds of tests like M. tuberculosis, HBV, HCV, HPV, leukemias/lymphomas, ApoE genotyping, MTHFR genotyping, BRCA1 & BRCA2, Duchenne muscular dystrophy, and Huntington disease. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2005 was proved to be helpful in continuous education and evaluation of quality improvement.