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Heerah Lee,Boram Kim,Man Jin Kim,Jee-Soo Lee,Sung Im Cho,Ho Seop Shin,Moon-Woo Seong 대한임상검사정도관리협회 2022 Journal of Laboratory Medicine And Quality Assuran Vol.44 No.2
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.
Lee Heerah,Kim Hyun-Ki,Yang Dong-Hoon,Hong Yong Sang,Lee Woochang,Lim Seok-Byung,Byeon Jeong-Sik,Chun Sail,Min Won-Ki 대한진단검사의학회 2021 Annals of Laboratory Medicine Vol.41 No.1
Dear Editor, Constitutional variants of the tumor suppressor gene adenomatous polyposis coli (APC) cause familial adenomatous polyposis (FAP), an autosomal dominant disorder characterized by numerous adenomatous colorectal polyps [1]. We detected a novel synonymous splice variant of APC in a family with FAP by next generation sequencing (NGS) and confirmed its impact on splicing by RNA sequencing.