作者
Elaine B Sizer, Tabitha Haw, Tina-Marié Wessels, Jennifer GR Kromberg, Amanda Krause
发表日期
2012/1/1
来源
Genetic testing and molecular biomarkers
卷号
16
期号
1
页码范围
58-62
出版商
Mary Ann Liebert, Inc.
简介
Background
Huntington disease (HD) is an autosomal dominant neurodegenerative disorder for which genetic counseling and testing are available in South Africa.
Objective
The purpose of this study was to assess the utilization of the services available in Johannesburg for diagnostic, predictive, and prenatal genetic testing and counseling for HD and the characteristics of the patients who use them.
Subjects and Methods
A retrospective study was conducted using records of patients (n=287) who had genetic counseling and/or testing for HD through the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand, Johannesburg, between January 1998 and December 2006. Age, gender, number of children, ethnicity, and test results were analyzed.
Results
Of the 287 patients included in this study, 77% had diagnostic testing, 20% predictive, and 3% prenatal testing. In the …
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