Uptake of Huntington disease predictive testing in a complete population.

doi:10.1111/j.1399-0004.2010.01538.x

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Article

Uptake of Huntington disease predictive testing in a complete population.

Clinical genetics - 1 Sept 2011

Morrison P J, Harding-Lester S, Bradley A

Abstract excerpt

Using the Northern Ireland Huntington disease (HD) register, the number of prospectively recorded predictive tests was analysed over a 20-year period. Two hundred and twelve patients completed predictive testing. Ninety-two (43%) received mutation-positive results and 119 (56%) mutation negative. There was one intermediate allele result. There was no significant gender difference. One hundred and eighty affected...

Topics

Adolescent
Adult
Age of Onset
Aged
Aged, 80 and over
Asymptomatic Diseases
Female
Genetic Testing
Genetics, Population
Humans
Huntingtin Protein
Huntington Disease
Male
Middle Aged
Mutation
Nerve Tissue Proteins
Northern Ireland
Nuclear Proteins

Source

Open in PubMed

Identifiers

PMID: 20880124
DOI: 10.1111/j.1399-0004.2010.01538.x

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