지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 저널정보
- 대한임상검사정도관리협회 Journal of Laboratory Medicine And Quality Assurance Laboratory Medicine and Quality Assurance 제44권 제2호
- 발행연도
- 2022.6
- 수록면
- 61 - 75 (15page)
- DOI
- 10.15263/jlmqa.2022.44.2.61
이용수
초록· 키워드
오류제보하기
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.
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