Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013).
- Author:
Mi Ae JANG
1
;
Sang Yong SHIN
;
Seungman PARK
;
Moon Woo SEONG
;
Sung Sup PARK
;
Sun Hee KIM
Author Information
1. Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Korea. sunnyhk@skku.edu
- Publication Type:Original Article
- Keywords:
Quality assurance;
Genetics;
Cytogenetics
- MeSH:
Achondroplasia;
Acidosis, Lactic;
Apolipoproteins;
Breast;
Chromosome Aberrations;
Cytogenetics;
Deafness;
Education;
Fragile X Syndrome;
Gene Rearrangement;
Genetics*;
Hearing Loss;
Hematologic Neoplasms;
Hepatitis B;
Hepatolenticular Degeneration;
Humans;
Huntington Disease;
In Situ Hybridization, Fluorescence;
Karyotype;
Korea;
Li-Fraumeni Syndrome;
Lymphoma;
MERRF Syndrome;
Methylenetetrahydrofolate Reductase (NADPH2);
Molecular Biology;
Muscular Atrophy, Spinal;
Muscular Disorders, Atrophic;
Muscular Dystrophy, Duchenne;
Mycobacterium tuberculosis;
Ovarian Neoplasms;
Papilloma;
Protein-Tyrosine Kinases;
Quality Control;
Quality Improvement;
Sequence Analysis, DNA;
Spinocerebellar Ataxias;
Stroke
- From:Journal of Laboratory Medicine and Quality Assurance
2014;36(2):71-83
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for Clinical Laboratories performed two trials for cytogenetics and molecular genetics surveys in 2013. A total of 43 laboratories participated in the cytogenetic surveys, 30 laboratories participated in the fluorescent in situ hybridization surveys, and 122 laboratories participated in the molecular genetics surveys in 2013. Almost all of them showed acceptable results. However, some laboratories had unacceptable results for karyotype nomenclature, detection of complex cytogenetic abnormalities in hematologic neoplasms and constitutional anomalies. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, fms-related tyrosine kinase 3, Nucleophosmin, cancer-associated genes (KRAS, EGFR and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy associated with ragged-red fibers, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, Fragile X syndrome, non-syndromic hearing loss and deafness (GJB2), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping and DNA sequence analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2013 was proved to be helpful for continuous education and evaluation of quality improvement.
