New quality assurance standards for rare disease testing

Genetics in Medicine

Volumn 10, Issue 5, 2008, Pages 320-324

  Grody, Wayne W ^a   Richards, C Sue ^b  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GENOMIC DNA; REAGENT;

ALLELE; ALTRUISM; CERTIFICATION; CLINICAL GENETICS; CLINICAL LABORATORY; CONSULTATION; DENATURING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; DIAGNOSTIC ERROR; DIAGNOSTIC PROCEDURE; DNA ISOLATION; DNA SEQUENCE; EXPERIENCE; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC DISORDER; GENETIC PROCEDURES; HETEROZYGOTE; HUMAN; HUMAN GENOME; LABORATORY TEST; LICENSING; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NOTE; PATHOLOGY; PHENOTYPE; PRACTICE GUIDELINE; PROFESSIONAL KNOWLEDGE; QUALITY CONTROL; RARE DISEASE; RELIABILITY; STANDARD; VALIDATION PROCESS;

DNA MUTATIONAL ANALYSIS; GENETIC DISEASES, INBORN; GENETIC SERVICES; GENETIC TECHNIQUES; HUMANS; PRACTICE GUIDELINES AS TOPIC; QUALITY CONTROL; RARE DISEASES; UNITED STATES;

EID: 44449114294     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31817283ba     Document Type: Note

References (7)

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3. Checklist 12: Molecular Pathology 2006. College of American Pathologists. Available at: http://www.cap.org. Accessed December 18, 2007.
4. Jarvis M, Iyer RK, Williams LO, Noll WW, et al. A novel method for creating artificial mutant samples for performance evaluation and quality control in clinical molecular genetics. J Mol Diagn 2005;7:247-251.
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6. ACMG Laboratory Practice Standards Committee Working Group. Recommendations for standards for interpretation of sequence variations. Genet Med 2000;2:302-303.
7. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998;11:1-3.