J Lab Med Qual Assur.  2003 Jun;25(1):157-179.

Annual Report on External Quality Assessment in Diagnostic Genetics in Korea (2002)

• Cho HC
• Kim SH
• Park SS
• Kong SY
• Kim HJ
• Choi HS
• Kim JS
• Kim EC
• Park SJ
• Park JW
• Seo SP
• Song KS
• Lee YK
• Joo SI
• Chi HS

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 2002. Cytogenetic surveys were performed by 33 laboratories and answered correctly in most laboratories except some problems in nomenclature and analysis for mosaicism and cytogenetics of neoplasia. The molecular genetic test surveys include M. tuberculosis, HCV, HBV, leukemia/lymphoma, ABO genotyping, ApoE genotyping, spinocerebellar ataxia (SCA), spinal muscular atrophy (SMA), and mitochondrial encephalomyopathy, lactic acidosis, and stroke like episodes (MELAS). HBV, SCA, SMA, MELAS tests were the first challenge of the genetic survey. Molecular genetic survey showed excellent results in most participants, however, ABO genotyping tests should be improved by new methods in a few laboratories. External quality assessment program for diagnostic genetics could be helpful to give participants many chances of continuous education and of interesting case materials.

Keyword

External quality assurance; Diagnostic genetics; Cytogenetics; Molecular genetics

MeSH Terms

Acidosis, Lactic
Apolipoproteins E
Cytogenetics
Education
Genetics*
Korea*
MELAS Syndrome
Mitochondrial Encephalomyopathies
Molecular Biology
Mosaicism
Muscular Atrophy, Spinal
Quality Control
Spinocerebellar Ataxias
Stroke
Tuberculosis
Apolipoproteins E