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GTR Home > Tests > Huntington's disease: Triplet CAG Repeat expansion study


This is a clinical test intended for Help: Diagnosis

Clinical summary


Imported from GeneReviews

Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years, and the median survival time is 15 to 18 years after onset.

Clinical features


Imported from Human Phenotype Ontology (HPO)

  • Chorea
  • Depression
  • Gliosis
  • Rigidity
  • Seizure
  • Hyperreflexia
  • Bradykinesia
  • Personality changes
  • Abnormality of eye movement
  • Dementia
  • Cerebellar atrophy
  • Gait ataxia
  • Neuronal loss in central nervous system
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Conditions tested

Target population


Not provided

Clinical validity


Not provided

Clinical utility


Establish or confirm diagnosis

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