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KMID : 0375320020240010127
Journal of Clinical Pathology and Quality Control
2002 Volume.24 No. 1 p.127 ~ p.146
Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2001)
CHo Hyoun-Chan

Woo Hee-Yeon
Kim Sun-Hee
Park Sung-Sup
Kim Jae-Seok
Lee You-Kyoung
Choi Hye-Shim
Kim Eui-Chong
Park Suk-Ja
Park Wong-Woo
Seo Soon-Pal
Song Kyung-Soon
Chi Hyun-Sook
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 proficiency trials for cytogenetic study and one proficiency trial for molecular genetic tests in 2001. Cytogenetic surveys were performed by 32 laboratories and answered correctly in most laboratories except some problems in nomenclature and analysis for unbalanced
whole arm translocation. Interpretation of special stain findings and fluorescent in situ hybridization (FISH) results has some problems to be improved. The proficiency trial for molecular genetic tests were molecular tests for genetic disorders including Huntington¡¯s disease(HD) and Leber Hereditary Optic Neuropathy(LHON), ABO genotyping, hematologic malignancies and infectious diseases including tuberculosis and hepatitis C. The trial materials for molecular tests were
distributed to 52 laboratories and most of them revealed acceptable result except only small number of laboratories in HCV PCR. External quality assessment program for diagnostic genetics could be helpful to give participants many chances of continuous education and of interesting case materials.
KEYWORD
External quality assurance, Cytogenetics, Molecular genetics
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