J Lab Med Qual Assur.  2016 Mar;38(1):22-42. 10.15263/jlmqa.2016.38.1.22.

Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2015)

• Kim HY
• Park CH
• Lee SJ
• Cho SI
• Seong MW
• Park SS
• Kim SH
• Diagnostic Genetics Subcommittee
• Korean Association of External Quality Assessment Service

• KMID: 2162120
• DOI: http://doi.org/10.15263/jlmqa.2016.38.1.22

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.

Keyword

Quality assurance; Cytogenetics; Genetics

MeSH Terms

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
Apolipoproteins
Cytochrome P-450 Enzyme System
Methylenetetrahydrofolate Reductase (NADPH2)
fms-Like Tyrosine Kinase 3