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pISSN 2950-9114 eISSN 2950-9122
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Report On Proficiency Testing

Lab Med Qual Assur 2022; 44(2): 61-75

Published online June 30, 2022


Copyright © Korean Association of External Quality Assessment Service.

Report on the External Quality Assessment Scheme for Genetic Disorders and Other Human Genetics Molecular Diagnostics in Korea (2018–2021)

Heerah Lee , Boram Kim , Man Jin Kim , Jee-Soo Lee , Sung Im Cho , Ho Seop Shin , and Moon-Woo Seong

Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea

Correspondence to:Moon-Woo Seong
Department of Laboratory Medicine, Seoul National University Hospital, 101 Daehak-ro, Jongno-gu, Seoul 03080, Korea
Tel +82-2-2072-4180
E-mail MWSeong@snu.ac.kr

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.


The human genetics molecular diagnostic proficiency testing program of the Korean Association of Quality Assurance for Clinical Laboratory conducted two trials annually from 2018–2021. The program consisted of the same 20 test items throughout the four year period while the number of participating laboratories fluctuated depending on the test item. The survey included hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2), Avellino type corneal dystrophy (TGFBI), multiple endocrine neoplasia 2 (RET), Huntington’s disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke-like episodes, myoclonic epilepsy with ragged red fibers, Leber hereditary optic neuropathy, Prader-Willi and Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, and ABO genotyping. The survey showed high confidence levels and improved overall performance. A method-based proficiency test survey for molecular diagnostic testing serves as a useful approach to assess the performance of clinical laboratories.

Keywords: Laboratory proficiency testing, Molecular pathology, Molecular genetics, Molecular biology

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