J Lab Med Qual Assur.  2014 Jun;36(2):71-83.

Annual Report on the External Quality Assessment of Diagnostic Genetics in Korea (2013)

• Jang MA
• Shin SY
• Park S
• Seong MW
• Park SS
• Kim SH
• Diagnostic Genetics Subcommittee, The Korean Association of Quality Assurance for Clinical Laboratory

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.

Keyword

Quality assurance; Genetics; Cytogenetics

MeSH Terms

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
Apolipoproteins
Methylenetetrahydrofolate Reductase (NADPH2)
Protein-Tyrosine Kinases