American College of Medical Genetics recommendations for the design and performance expectations for clinical genomic copy number microarrays intended for use in the postnatal setting for detection of constitutional abnormalities

Genetics in Medicine

Volumn 13, Issue 7, 2011, Pages 676-679

  Kearney, Hutton M ^a   South, Sarah T ^b   Wolff, Daynna J ^c   Lamb, Allen ^d   Hamosh, Ada ^e   Rao, Kathleen W ^f  

^a Mission Health System   (United States)

^b ARUP LABORATORIES   (United States)

^c MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^d Signature Genomics   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

aCGH; CMA; guideline; microarray

Indexed keywords

DNA;

ARTICLE; CLINICAL LABORATORY; COPY NUMBER VARIATION; DATA ANALYSIS; GENE DOSAGE; GENETIC SCREENING; GENOME ANALYSIS; GENOTYPE; HUMAN; INFORMATION PROCESSING; LABORATORY TEST; MEDICAL DECISION MAKING; MEDICAL DOCUMENTATION; MEDICAL GENETICS; MEDICAL RECORD; MEDICAL SOCIETY; MICROARRAY ANALYSIS; MOLECULAR PROBE; PATENT; PERINATAL PERIOD; PHENOTYPE; PRACTICE GUIDELINE; PROFESSIONAL STANDARD; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; VALIDATION PROCESS;

ABNORMALITIES, MULTIPLE; CHILD; DEVELOPMENTAL DISABILITIES; GENE DOSAGE; GENETIC TESTING; GENETICS, MEDICAL; GENOME, HUMAN; HUMANS; INTELLECTUAL DISABILITY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS;

EID: 79960783840     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1097/GIM.0b013e31822272ac     Document Type: Article

References (5)

1. Manning M, Hudgins L; Professional Practice and Guidelines Committee. Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities. Genet Med 2010; 12:742-745.
2. Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-764.
3. Stavropoulos J. CCMG guidelines for genomic microarray testing. CCMG Cytogenetics Committee. Available at: http://www.ccmg-ccgm.org/pdf/policy/2010/ (7)%20CCMG-PractGuide-CYTO-Microarray-13July10.pdf. Accessed June 9, 2011.
4. Farndon P, Westwood J. Supporting genetic testing in the NHS-second report of the UKGTN. South East London, England: UKGTN, 2010.
5. Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; A Working Group of the American College of Medical Genetics (ACMG) Laboratory Quality Assurance Committee. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011;13:680-685.