J Lab Med Qual Assur.
2008 Jun;30(1):167-187.
Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2007)
- Affiliations
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- 1Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Laboratory Medicine, Seoul, Korea. sunnyhk@smc.samsung.co.kr
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 2007. Cytogenetic surveys were performed by 42 laboratories and answered correctly in most laboratories except some problems in karyotype nomenclature and the detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetics surveys included many kinds of tests: M. tuberculosis detection, hepatitis B (HBV) and C virus (HCV) detection and quantification, human papilloma virus (HPV) genotyping, 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 hereditary conditions such as Duchenne muscular dystrophy (DMD), Huntington disease, spinocerebellar ataxia, spinal muscular atrophy, and Prader-Willi/Angelman syndrome. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2007 was proved to be helpful in continuous education and evaluation of quality improvement.
MeSH Terms
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Apolipoproteins
Breast
Chromosome Aberrations
Cytogenetics
Gene Rearrangement
Hepatitis B
Humans
Huntington Disease
Karyotype
Korea
Leukemia
Lymphoma
Methylenetetrahydrofolate Reductase (NADPH2)
Molecular Biology
Muscular Atrophy, Spinal
Muscular Dystrophy, Duchenne
Ovarian Neoplasms
Papilloma
Quality Control
Spinocerebellar Ataxias
Tuberculosis
Viruses
Apolipoproteins
Methylenetetrahydrofolate Reductase (NADPH2)
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