Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015).
10.15263/jlmqa.2016.38.1.22
- Author:
Hyun Young KIM
1
;
Chang Hun PARK
;
Seung Joon LEE
;
Sung Im CHO
;
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:Review
- Keywords:
Quality assurance;
Cytogenetics;
Genetics
- MeSH:
Achondroplasia;
Acidosis, Lactic;
Apolipoproteins;
Breast;
Cytochrome P-450 Enzyme System;
Cytogenetics;
Deafness;
Education;
Epilepsies, Myoclonic;
Fluorescence;
fms-Like Tyrosine Kinase 3;
Fragile X Syndrome;
Gene Rearrangement;
Genetics*;
Hearing Loss;
Hepatitis B;
Hepatolenticular Degeneration;
Humans;
Huntington Disease;
In Situ Hybridization;
Korea*;
Li-Fraumeni Syndrome;
Lymphoma;
Methylenetetrahydrofolate Reductase (NADPH2);
Molecular Biology;
Multiple Endocrine Neoplasia;
Muscular Atrophy, Spinal;
Muscular Disorders, Atrophic;
Muscular Dystrophy, Duchenne;
Mycobacterium tuberculosis;
Optic Atrophy, Hereditary, Leber;
Ovarian Neoplasms;
Papilloma;
Quality Improvement;
Sequence Analysis, DNA;
Spinocerebellar Ataxias;
Stroke
- From:Journal of Laboratory Medicine and Quality Assurance
2016;38(1):22-42
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated in the chromosome surveys, 31 laboratories participated in the fluorescence in situ hybridization surveys, and 133 laboratories participated in the molecular genetics surveys. All except one laboratory showed acceptable results in the cytogenetics surveys. The molecular genetics surveys included the following tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemias and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2 ), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome (FMR1), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, cytochrome P450 2C9 genotyping, cytochrome P450 2C19 genotyping, and DNA sequencing analysis. The molecular genetics surveys showed excellent results for most of the participants. The external quality assessment program for genetics analysis in 2015 proved to be helpful for continuous education and the evaluation of quality improvement.
