|
KMID : 0985420080300010167
|
|
Laboratory Medicine and Quality Assurance
2008 Volume.30 No. 1 p.167 ~ p.187
|
|
|
Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2007)
|
|
Kim Sun-Hee
Kim Jong-Won
Cho Hyoun-Chan
Park Sung-Sup
Kong Sun-Young
Lee Yoo-Kyung
Kim Jae-Seok
Ki Chang-Seok
Kim Jeong-Hyun
Oh Sue-Hyun
Ki Seung-Jung
Han Sung-Hee
Seo Eul-Ju
Kim Eun-Ji
Jeagal Tae-Young
|
|
|
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.
|
|
|
KEYWORD
|
|
|
External quality assurance, Diagnostic genetics, Cytogenetics, Molecular genetics
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|