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Volumn 14, Issue 1, 2012, Pages 69-75

Assessing the analytic validity of molecular testing for Huntington disease using data from an external proficiency testing survey

Author keywords

analytic validity; external proficiency testing; Huntington disease; quality assurance

Indexed keywords

ARTICLE; DIAGNOSTIC TEST; GENETIC ANALYSIS; GOOD LABORATORY PRACTICE; HUMAN; HUNTINGTON CHOREA; LABORATORY TEST; MOLECULAR DIAGNOSIS; TRINUCLEOTIDE REPEAT; UNITED STATES; VALIDITY;

EID: 85027956019     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.0b013e3182310bb5     Document Type: Article
Times cited : (19)

References (14)
  • 1
    • 0007695788 scopus 로고    scopus 로고
    • Basal ganglia disorders
    • Rimoin DL, Connor JM, Pyeritz RE, Korf BR, (eds) Churchill-Livingstone: New York
    • Hayden M. Basal ganglia disorders. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, (eds). Emery and Rimoin's Principles and Practice of Medical Genetics. Churchill-Livingstone: New York, 1996:2203-2208.
    • (1996) Emery and Rimoin's Principles and Practice of Medical Genetics , pp. 2203-2208
    • Hayden, M.1
  • 2
    • 85028118136 scopus 로고    scopus 로고
    • Accessed 28 March 2011
    • GeneTests. http://www.ncbi.nlm.nih.gov/sites/GeneTests. Accessed 28 March 2011.
    • GeneTests
  • 3
    • 79551613053 scopus 로고    scopus 로고
    • American College of Medical Genetics, Standards and Guidelines for Clinical Genetics Laboratories Edition Accessed 28 March 2011
    • American College of Medical Genetics, Standards and Guidelines for Clinical Genetics Laboratories; 2006 Edition. Technical standards and guidelines for Huntington disease. http://www.acmg.net/Pages/ACMG-Activities/stds-2002/HD. htm. Accessed 28 March 2011.
    • (2006) Technical Standards and Guidelines for Huntington Disease
  • 4
    • 33749351689 scopus 로고    scopus 로고
    • Genetic testing oversight
    • DOI 10.1126/science.1134996
    • Hudson KL. Genetic testing oversight. Science 2006;313:1853. (Pubitemid 44497970)
    • (2006) Science , vol.313 , Issue.5795 , pp. 1853
    • Hudson, K.L.1
  • 6
    • 33847043917 scopus 로고    scopus 로고
    • To know or not to know: A review of behaviour and suicidal ideation in preclinical Huntington's disease
    • Robins Wahlin TB. To know or not to know: a review of behaviour and suicidal ideation in preclinical Huntington's disease. Patient Educ Couns 2007;65: 279-287.
    • (2007) Patient Educ Couns , vol.65 , pp. 279-287
    • Robins Wahlin, T.B.1
  • 7
    • 0842327450 scopus 로고    scopus 로고
    • Technical Standards and Guidelines for Huntington Disease Testing
    • DOI 10.1097/01.GIM.0000106165.74751.15
    • Potter NT, Spector EB, Prior TW. Technical standards and guidelines for Huntington disease testing. Genet Med 2004;6:61-65. (Pubitemid 38175981)
    • (2004) Genetics in Medicine , vol.6 , Issue.1 , pp. 61-65
    • Potter, N.T.1    Spector, E.B.2    Prior, T.W.3
  • 8
    • 34247113143 scopus 로고    scopus 로고
    • A new method for accurate assessment of DNA quality after bisulfite treatment
    • Ehrich M, Zoll S, Sur S, van den Boom D. A new method for accurate assessment of DNA quality after bisulfite treatment. Nucleic Acids Res 2007;35:e29.
    • (2007) Nucleic Acids Res , vol.35
    • Ehrich, M.1    Zoll, S.2    Sur, S.3    Van Den Boom, D.4
  • 9
    • 0035407651 scopus 로고    scopus 로고
    • Bisulfite genomic sequencing: Systematic investigation of critical experimental parameters
    • Grunau C, Clark SJ, Rosenthal A. Bisulfite genomic sequencing: systematic investigation of critical experimental parameters. Nucleic Acids Res 2001;29:E65-E65.
    • (2001) Nucleic Acids Res , vol.29
    • Grunau, C.1    Clark, S.J.2    Rosenthal, A.3
  • 10
    • 85028114477 scopus 로고    scopus 로고
    • United Kingdom National External Quality Assessment Scheme (NEQAS) Accessed 28 March 2011
    • United Kingdom National External Quality Assessment Scheme (NEQAS). http://www.ukneqas-molgen.org.uk/ukneqas/index/news.html. Accessed 28 March 2011.
  • 11
    • 85028113689 scopus 로고    scopus 로고
    • European Molecular Genetics Quality Network (EMQN) Accessed 28 March 2011
    • European Molecular Genetics Quality Network (EMQN). http://www.emqn.org/ emqn/Schemes. Accessed 28 March 2011.
  • 12
    • 85028128438 scopus 로고    scopus 로고
    • Royal College of Pathologists of Australasia (RCPA) Accessed 28 March 2011
    • Royal College of Pathologists of Australasia (RCPA). http://www. rcpaqap.com. au/gendocs/uploadedfiles/InformationBooklet.pdf. Accessed 28 March 2011.
  • 13
    • 85028104334 scopus 로고    scopus 로고
    • Best Practice European Molecular Genetics Quality Network (EMQN) Accessed 28 March 2011
    • Best Practice European Molecular Genetics Quality Network (EMQN). Draft available at http://www.cmgs.org/BPGs/pdfs%20current%20bpgs/HD% 20BPG%20April%202010%20for%20consultation.pdf. Accessed 28 March 2011.
    • Draft


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.