Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2007).
- Author:
Sun Hee KIM
1
;
Chang Seok KI
;
Jeong Hyun KIM
;
Sue Hyun OH
;
Jong Won KIM
;
Sung Sup PARK
;
Jae Seok KIM
;
You Kyung LEE
;
Sun Young KONG
;
Seung Jung KI
;
Sung Hee HAN
;
Eul Ju SEO
;
Hyoun Chan CHO
;
Eun Ji KIM
;
Tae Young JEAGAL
Author Information
1. Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Laboratory Medicine, Seoul, Korea. sunnyhk@smc.samsung.co.kr
- Publication Type:Note
- Keywords:
External quality assurance;
Diagnostic genetics;
Cytogenetics;
Molecular genetics
- MeSH:
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
- From:Journal of Laboratory Medicine and Quality Assurance
2008;30(1):167-187
- CountryRepublic of Korea
- Language:Korean
-
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.
