Status of BRCA1/2 Genetic Testing Practices in Korea (2014)
Laboratory Medicine Online
;
: 107-113, 2018.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Spécialisation
/
Dépistage génétique
/
Enquêtes et questionnaires
/
Courrier électronique
/
Académies et instituts
/
Réaction de polymérisation en chaine multiplex
/
Corée
/
Méthodes
Type d'étude:
Guide de pratique
/
Recherche qualitative
Pays comme sujet:
Asie
langue:
Coréen
Texte intégral:
Laboratory Medicine Online
Année:
2018
Type:
Article
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