The utilization and outcome of diagnostic, predictive, and prenatal genetic testing for huntington disease in johannesburg, South Africa

• Published in: Genetic testing and molecular biomarkers Vol. 16; no. 1; p. 58
• Main Authors: Sizer, Elaine B, Haw, Tabitha, Wessels, Tina-Marié, Kromberg, Jennifer G R, Krause, Amanda
• Format: Journal Article
• Language: English
• Published: United States 01.01.2012
• Subjects: Adult; Aged; Aged, 80 and over; Female; Genetic Counseling - statistics & numerical data; Genetic Counseling - utilization; Genetic Testing - statistics & numerical data; Genetic Testing - utilization; Humans; Huntington Disease - diagnosis; Huntington Disease - epidemiology; Huntington Disease - genetics; Male; Middle Aged; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis - statistics & numerical data; Prenatal Diagnosis - utilization; Prevalence; Prognosis; Retrospective Studies; South Africa - epidemiology; Young Adult; South Africa

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder for which genetic counseling and testing are available in South Africa. The purpose of this study was to assess the utilization of the services available in Johannesburg for diagnostic, predictive, and prenatal genetic testi...