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Guidelines for Genetic Counseling and Reporting of Cancer Genetic Test Results: Genetic Test for Hereditary Cancer-predisposing Syndrome Using Next-generation Sequencing

Kim DH, Kim N, Kong SY

Genetic counseling and reporting on cancer genetic test results using next-generation sequencing (NGS) are practiced in various ways in different Korean genetic laboratories. Therefore, the Korean Society for Genetic Diagnostics...
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Applying Functional Assay Evidence to Interpret Sequence Variants Identified in Hereditary Cancer Genes

Choi YJ, Kim B, Kim Y, Shin S, Lee KA

The demand for the interpretation of sequence variants identified by next-generation sequencing is gradually increasing in clinical laboratories. The American College of Medical Genetics and the Association for Molecular Pathology...
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Transfusion of the Least-incompatible Blood with Intravenous Immunoglobulin and Steroid to a Patient with Anti-Fya

Yu J, Kim JS, Yang JJ, Chung Y, Kim H, Hwang SH, Oh HB, Youk HJ, Ko DH

Antibody to high-incidence antigens is one of the most challenging issues in transfusion medicine. Transfusion of the least-incompatible red blood cell (RBC) unit is standard practice, which may sometimes result...
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The First Korean Case of RHD-CE(3-8)-D Hybrid Type with a D-negative Phenotype

Bae GE, Kim TY, Yu H, Seo JY, Cho D

RHD-CE-D hybrid alleles cause partial D or D-negative phenotypes depending on the crossing-over sites between RHD and RHCE. The RHD-CE(2-9)-D hybrid allele is the only hybrid form reported as D-negative...
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The First Case of Coniochaeta hoffmannii Fungemia and Literature Review

Hong Y, Kim D, Park K, Sung H, Kim MN

Coniochaeta hoffmannii (formerly, Lecythophora hoffmannii) is a soil-inhabiting plant pathogen in the class of Sordariomycetes. Coniochaeta species are rare and opportunistic and cause subcutaneous infections, keratitis, sinusitis, and peritonitis. Only...
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Serum Biotin Levels in General Korean Population

Moon S, Cho EH, Park SJ, Kwon MJ, Park H, Woo HY

The risk of biotin interference has been growing, as the intake of biotin for hair, skin, and nail care has increased. Elevated serum biotin concentration can interfere with immunoassays, thereby...
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A Novel Germline Mutation in DDX41 Predisposed to Myelodysplasia/Acute Myeloid Leukemia

Kwak MS, Jeong IH, Kim SH, Kim N

Germline DDX41lesions indicate a hereditary myelodysplastic syndrome and acute myeloid leukemia (MDS/AML). Canonical somatic mutations in this gene often coincide as a second hit with germline DDX41mutations. We report a...
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Performance Evaluation of the AllCheck hCG Card Point-of-Care Device and Method Comparison with the Alere hCG Cassette Assay for Pregnancy Test

Lee KS, Kim BH, Ahn HJ, Kim JH, Roh KH, Yoo J

Background: Immunochromatographic point-of-care (POC) devices ae widely used by laboratories and lay users for urinary human chorionic gonadotropin (hCG) detection. Performance evaluation of pregnancy POC devices is rarely published. We...
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Performance of the ASTA MicroIDSys, a Novel MALDI-TOF MS Platform for Identifying Various Acinetobacter Species: Comparison with the Bruker Biotyper

Kim W, Lee HJ, Lee S, Kim CM, Shin JH, Kim SH, Ko YJ, Kang SH, Park G, Jang SJ

Background: Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) is a rapid and reliable method for microorganism identification. Herein, we compared the performance of the recently developed ASTA MicroIDSys (ASTA,...
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Evaluation of the Xpert Carba-R Assay for Detection of Rectal Carbapenemase-producing Enterobacterales in a Korean Tertiary Hospital

Han J, Ha SI, Shin DP, Cha YJ, Yoo IY, Park YJ

Background: Carbapenemase-producing Enterobacterales (CPE) have been highlighted as an urgent threat by international health authorities. Rapid detection of carbapenemase will allow implementation of infection control measures. Methods: We assessed the performance...
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