J Lab Med Qual Assur.  2005 Jun;27(1):141-165.

Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2004)

• Kim SH
• Kim JW
• Park S
• Cho EH
• Kim EJ
• Park SS
• Kim JS
• Lee YK
• Ki CS
• Kee SJ
• Kong SY
• Han S
• Seo EJ
• Cho HC

Abstract

The importance of quality control for dramatically growing genetic tests continues to be emphasized with increasing clinical demands. Diagnostic genetics subcommitee of KSQACP performed two trials for cytogenetic study in 2004. Cytogenetic surveys were performed by 36 laboratories and answered correctly in most laboratories except some problems in karyotype nomenclature, interpretation of FISH test results and the detection of complex cytogenetic abnormalities in hematologic neoplasias. The molecular genetic test surveys included may kinds of tests like M. tuberculosis, HBV, HCV, HPV, leukemias/lymphomas, ApoE genotyping, MTHFR genotyping, BRCA1 & BRCA2, Duchenne muscular dystrophy, and Huntington disease. Each molecular test for HCV, MTHFR genotyping, BRCA1 & BRCA2 analysis and Huntington disease was the first challenge in 2004. Molecular genetic surveys showed excellent results in most of participants. External quality assessment program for genetic analysis in 2004 was proved to be helpful in continuous education and evaluation of quality improvement.

Keyword

External quality assurance; Diagnostic genetics; Cytogenetics; Molecular genetics

MeSH Terms

Apolipoproteins E
Chromosome Aberrations
Cytogenetics
Education
Genetics*
Huntington Disease
Karyotype
Korea*
Molecular Biology
Muscular Dystrophy, Duchenne
Quality Control
Quality Improvement
Tuberculosis
Apolipoproteins E