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Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
Laboratory Medicine Online ; : 107-113, 2018.
Artículo en Coreano | WPRIM | ID: wpr-715909
ABSTRACT

BACKGROUND:

The aim of this study was to investigate the status of BRCA1/2 genetic testing practices in Korea in 2014.

METHODS:

A structured questionnaire was provided to the specialist in charge of BRCA1/2 genetic testing via e-mail between 28 July and 10 August 2015. A total of 11 genetic testing professionals from 14 organizations responded to the survey that asked about the status of BRCA1/2 genetic testing in the year 2014.

RESULTS:

The average number of BRCA1/2 genetic tests executed was 192; 6 organizations had executed less than 100 tests, and 5 organizations had conducted more than 100 tests. The primary testing method used was Sanger sequencing (100%), and 2 institutes performed multiplex ligation-dependent probe amplification (MLPA). The analysis software differed across the various organizations, with Sequencher (81.81%), Seqscape (27.27%), and Codoncode Aligner (9.09%) reported as utilized. We found that the guidelines for the interpretation of the genetic tests were different at each institution.

CONCLUSIONS:

Although this study only examined the status of the 2014 BRCA1/2 genetic testing practices of 11 institutions, it illustrates the necessity for standardized genetic testing or interpretation guidelines in Korea.
Asunto(s)

Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Especialización / Pruebas Genéticas / Encuestas y Cuestionarios / Correo Electrónico / Academias e Institutos / Reacción en Cadena de la Polimerasa Multiplex / Corea (Geográfico) / Métodos Tipo de estudio: Guía de Práctica Clínica / Investigación cualitativa País/Región como asunto: Asia Idioma: Coreano Revista: Laboratory Medicine Online Año: 2018 Tipo del documento: Artículo

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Texto completo: Disponible Índice: WPRIM (Pacífico Occidental) Asunto principal: Especialización / Pruebas Genéticas / Encuestas y Cuestionarios / Correo Electrónico / Academias e Institutos / Reacción en Cadena de la Polimerasa Multiplex / Corea (Geográfico) / Métodos Tipo de estudio: Guía de Práctica Clínica / Investigación cualitativa País/Región como asunto: Asia Idioma: Coreano Revista: Laboratory Medicine Online Año: 2018 Tipo del documento: Artículo