Autor: Bijlsma, E. K., Koopmann, T. T., de Bot, S. T., Losekoot, M.
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Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons disease
Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ request to know their genetic stat…