Technical Standards and Guidelines for Huntington Disease Testing

Nicholas Potter, Elaine B. Spector, Thomas W. Prior

Research output: Contribution to journalReview article

58 Citations (Scopus)

Abstract

One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Huntington Disease (HD) Working Group. These guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing HD testing, because the technologies discussed are available commercially and are widely utilized. We take the view that these technologies may change, and thus this document may change with future review.

Original languageEnglish (US)
Pages (from-to)61-65
Number of pages5
JournalGenetics in Medicine
Volume6
Issue number1
DOIs
StatePublished - Jan 1 2004
Externally publishedYes

Fingerprint

Huntington Disease
Guidelines
Technology
Molecular Biology
Cytogenetics

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)
  • Genetics

Cite this

Technical Standards and Guidelines for Huntington Disease Testing. / Potter, Nicholas; Spector, Elaine B.; Prior, Thomas W.

In: Genetics in Medicine, Vol. 6, No. 1, 01.01.2004, p. 61-65.

Research output: Contribution to journalReview article

Potter, Nicholas ; Spector, Elaine B. ; Prior, Thomas W. / Technical Standards and Guidelines for Huntington Disease Testing. In: Genetics in Medicine. 2004 ; Vol. 6, No. 1. pp. 61-65.
@article{025fa242a88b4ca280ab52c7cf364da9,
title = "Technical Standards and Guidelines for Huntington Disease Testing",
abstract = "One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Huntington Disease (HD) Working Group. These guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing HD testing, because the technologies discussed are available commercially and are widely utilized. We take the view that these technologies may change, and thus this document may change with future review.",
author = "Nicholas Potter and Spector, {Elaine B.} and Prior, {Thomas W.}",
year = "2004",
month = "1",
day = "1",
doi = "10.1097/01.GIM.0000106165.74751.15",
language = "English (US)",
volume = "6",
pages = "61--65",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "1",

}

TY - JOUR

T1 - Technical Standards and Guidelines for Huntington Disease Testing

AU - Potter, Nicholas

AU - Spector, Elaine B.

AU - Prior, Thomas W.

PY - 2004/1/1

Y1 - 2004/1/1

N2 - One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Huntington Disease (HD) Working Group. These guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing HD testing, because the technologies discussed are available commercially and are widely utilized. We take the view that these technologies may change, and thus this document may change with future review.

AB - One mission of the ACMG Laboratory Quality Assurance (QA) Committee is to develop standards and guidelines for clinical genetics laboratories, including cytogenetics, biochemical, and molecular genetics specialties. This document was developed under the auspices of the Molecular Subcommittee of the Laboratory QA Committee by the Huntington Disease (HD) Working Group. These guidelines are not to be interpreted as restrictive or the only approach but to provide a helpful guide. Certainly, appropriately trained and credentialed laboratory directors have flexibility to utilize various testing platforms and design testing strategies with considerable latitude. We felt that it was essential to include technique-specific guidelines of several current technologies commonly used in laboratories providing HD testing, because the technologies discussed are available commercially and are widely utilized. We take the view that these technologies may change, and thus this document may change with future review.

UR - http://www.scopus.com/inward/record.url?scp=0842327450&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0842327450&partnerID=8YFLogxK

U2 - 10.1097/01.GIM.0000106165.74751.15

DO - 10.1097/01.GIM.0000106165.74751.15

M3 - Review article

VL - 6

SP - 61

EP - 65

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 1

ER -