Journal of Laboratory Medicine and Quality Assurance  2009;31(1):161-181

Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2008).

Sun Hee KIM 1 ; Chang Seok KI ; Byung Ryul JEON ; Seung Tae LEE ; Eun Hyung YOO ; Jong Won KIM ; Sung Sup PARK ; Jae Seok KIM ; You Kyung LEE ; Sun Young KONG ; Seung Jung KI ; Sung Hee HAN ; Eul Ju SEO

Affiliations

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Keywords

External quality assurance; Diagnostic genetics; Cytogenetics; Molecular genetics

Country

Republic of Korea

Language

Korean

MeSH

Abstract

The quality control for genetic tests would be of great importance as the test volume and clinical demands increase dramatically. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2008. A total of 41 laboratories participated in the cytogenetic surveys, and most of them showed acceptable results. However, some laboratories showed unacceptable results for the karyotype nomenclature and detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetics surveys included various 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 disorders such as spinal muscular atrophy (SMA), Huntington disease (HD), spinocerebellar ataxia (SCA), Prader-Willi/Angelman syndrome (PWS/AS), mitochondrial encephalopathy with lactic acidosis and strokelike episodes (MELAS), myoclonic epilepsy ragged red fiber (MERRF), wilson disease (ATP7B) and cancer-associated genes (KRAS). Molecular genetic surveys showed excellent results in most of the participants. External quality assessment program for genetic analysis in 2008 was proved to be helpful in continuous education and evaluation of quality improvement.