Fifteen years of experience in predictive testing for Huntington disease at a single testing center in Victoria, Australia

Abstract

PURPOSE: This retrospective study describes 15 years of experience in predictive testing for Huntington disease at a single center in Victoria, Australia. METHOD: Data collected on 756 participants included age, gender, family history, prior risk and the age at which this risk became known, exposure to Huntington disease, number of children, and proximity to the testing center. RESULTS: Some 57.8% of participants were female, and 88.8% had a 50% risk of developing Huntington disease. The mean age at entry was 40.4 years and was gender-independent. Of all completed tests (n = 648), 37.5% gave high-risk results, and 3.2% were in the zone of reduced penetrance. The 14.3% who withdrew from testi..