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The neurogenetics genie: testing for the Huntington's disease mutation

Neurology. 1994 Aug;44(8):1369-73. doi: 10.1212/wnl.44.8.1369.

Abstract

Even though the discovery of the HD gene will make genetic testing much easier to perform, until there is an effective treatment, it will be no easier for HD families to learn who among them carries the mutation. We believe that the standard of care for obtaining genetic testing for HD, as well as for other inherited neurodegenerative disorders, must continue to include extensive counseling, psychological assessment and support, a neurologic examination, and post-test follow-up. We advocate a flexible approach consistent with the individual's particular needs, but we emphasize that it is essential that these basic elements be adequately addressed.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • DNA Mutational Analysis
  • Genetic Linkage
  • Genetic Testing*
  • Humans
  • Huntington Disease / genetics*
  • Polymorphism, Restriction Fragment Length