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J Lab Med Qual Assur. 2010 Jun;32(1):147-170. Korean. Note.
Kim SH , Ki CS , Kim S , Kwon MJ , Kim JW , Park SS , Kim JS , Lee YK , Kong SY , Ki SJ , Han SH , Seo EJ , CHo HC , Kim EJ , Kim PW .
Diagnostic Genetics Subcommittee, The Korea Association of Quality Assurance for Clinical Laboratory, Seoul, Korea. sunnyhk@smc.samsung.co.kr
Abstract

BACKGROUND: The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommittee of KSQACL performed two trials for cytogenetics and molecular genetics surveys in 2009. METHODS: A total of 67 laboratories participated in the cytogenetic surveys, 30 laboratories participated in the FISH surveys, and 94 laboratories participated in the molsecular genetics surveys in 2009. RESULTS: Almost of them showed acceptable results. However, some laboratories showed unacceptable results for the karyotype nomenclature and detection of complex cytogenetic abnormalities in hematologic neoplasms, and most of them except one showed acceptable results in FISH surveys. The molecular genetics surveys included various tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, Influenza A (H1N1) detection, gene rearrangement tests for leukemias and lymphomas, apolipoprotein E (APOE) genotyping, methylenetetrahydrofolate reductase (MTHFR) genotyping, hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), and genetic tests for achondroplasia (FGFR3), FMS-like tyrosine kinase 3 (FLT3), JAK2, BRAF, hereditary disorders such as spinal muscular atrophy, Huntington disease (HD), spinocerebellar ataxia (SCA), Prader-Willi/Angelman syndrome (PWS/AS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS), myoclonic epilepsy ragged red fiber (MERRF), wilson disease (ATP7B) and cancer-associated genes (KRAS). Molecular genetic surveys showed excellent results in most of the participants. CONCLUSIONS: External quality assessment program for genetic analysis in 2009 was proved to be helpful in continuous education and evaluation of quality improvement.

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