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GTR Home > Tests > Huntington disease

Overview

Test name

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Huntington disease

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Pre-symptomatic

Condition

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Click Indication tab for more information.

How to order

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Not provided

Methodology

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Molecular Genetics
TTargeted variant analysis
Trinucleotide repeat by PCR or Southern Blot

Summary of what is tested

Click Methodology tab for more information.

Clinical utility

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Not provided

Clinical validity

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Not provided

Practice guidelines

  • ASHG/ACMG, 2015
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents
  • EHDN, 2014
    Diagnostic genetic testing for Huntington's disease.
  • ACMG, 2014
    American College of Medical Genetics and Genomics Standards and Guidelines for Clinical Genetics Laboratories, 2014 edition: technical standards and guidelines for Huntington disease.
  • EMQN/CMGS, 2013
    EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease.
  • EHDN, 2013
    Recommendations for the predictive genetic test in Huntington's disease.
  • AAN, 2015
    Evidence-based guideline: Pharmacologic treatment of chorea in Huntington disease: Report of the Guideline Development Subcommittee of the American Academy of Neurology (Reaffirmed, 2015)
  • ACMG, 2004
    Technical standards and guidelines for Huntington disease testing.
  • ACMG/ASHG, 1998
    ACMG/ASHG statement. Laboratory guidelines for Huntington disease genetic testing. The American College of Medical Genetics/American Society of Human Genetics Huntington Disease Genetic Testing Working Group.
  • ASHG/ACMG, 1995
    Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents (See 2015 Update)
  • IHA/WFN, 1994
    Guidelines for the molecular genetics predictive test in Huntington's disease. International Huntington Association (IHA) and the World Federation of Neurology (WFN) Research Group on Huntington's Chorea.
  • IHA/WFN, 1994
    International Huntington Association and the World Federation of Neurology Research Group on Huntington's Chorea. Guidelines for the molecular genetics predictive test in Huntington's disease.
  • WFN, 1989
    World Federation of Neurology: Research Committee. Research Group on Huntington's chorea. Ethical issues policy statement on Huntington's disease molecular genetics predictive test.

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