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Article

Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntington's disease.

Journal of medical genetics - 25 Jun 2026

Bijlsma Emilia K, Koopmann Tamara T, de Bot Susanne T, Losekoot Monique

Abstract excerpt

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 status. Family planning is one of the main reasons why predictive testing is requested and with the availability of a direct test, new choices regarding reproduction emerged. In...

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Identifiers

PMID: 41956800
DOI: 10.1136/jmg-2026-111509

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