ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013

被引：241
作者：
South, Sarah T. [1 ,2 ]
Lee, Charles [3 ]
Lamb, Allen N. [1 ,2 ]
Higgins, Anne W. [4 ,5 ]
Kearney, Hutton M. [6 ]
机构：
[1] ARUP Labs, Salt Lake City, UT USA
[2] Univ Utah, Dept Pathol, Salt Lake City, UT USA
[3] Harvard Univ, Brigham & Womens Hosp, Sch Med, Boston, MA 02115 USA
[4] UMass Mem Med Ctr, Dept Pathol, Worcester, MA USA
[5] Univ Massachusetts, Sch Med, Worcester, MA USA
[6] Mission Hlth, Fullerton Genet Ctr, Asheville, NC USA
来源：
GENETICS IN MEDICINE | 2013年 / 15卷 / 11期
关键词：
constitutional; guidelines; microarray; postnatal; prenatal; standards; COPY NUMBER VARIANTS; MEDICAL GENETICS; AMERICAN-COLLEGE; RESOURCES; ABNORMALITIES; PLATFORMS; DATABASE;
D O I：
10.1038/gim.2013.129
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Microarray methodologies, including array comparative genomic hybridization and single-nucleotide polymorphism detecting arrays, are accepted as an appropriate first-tier test for the evaluation of imbalances associated with intellectual disability, autism, and multiple congenital anomalies. This technology also has applicability in prenatal specimens. To assist clinical laboratories in validation of microarray methodologies for constitutional applications, the American College of Medical Genetics and Genomics has produced the following revised professional standards and guidelines.
引用
收藏
页码：901 / 909
页数：9
相关论文
共 14 条
  • [1] Cytogenetics TAfC, 2012, V3 01 CLIN GENETICS, V15, P1
  • [2] DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
    Firth, Helen V.
    Richards, Shola M.
    Bevan, A. Paul
    Clayton, Stephen
    Corpas, Manuel
    Rajan, Diana
    Van Vooren, Steven
    Moreau, Yves
    Pettett, Roger M.
    Carter, Nigel P.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (04) : 524 - 533
  • [3] American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
    Kearney, Hutton M.
    Thorland, Erik C.
    Brown, Kerry K.
    Quintero-Rivera, Fabiola
    South, Sarah T.
    [J]. GENETICS IN MEDICINE, 2011, 13 (07) : 680 - 685
  • [4] 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
    Kearney, Hutton M.
    South, Sarah T.
    Wolff, Daynna J.
    Lamb, Allen
    Hamosh, Ada
    Rao, Kathleen W.
    [J]. GENETICS IN MEDICINE, 2011, 13 (07) : 676 - 679
  • [5] Copy number variations and clinical cytogenetic diagnosis of constitutional disorders
    Lee, Charles
    Iafrate, A. John
    Brothman, Arthur R.
    [J]. NATURE GENETICS, 2007, 39 (Suppl 7) : S48 - S54
  • [6] Array-based technology and recommendations for utilization in medical genetics practice for detection of chromosomal abnormalities
    Manning, Melanie
    Hudgins, Louanne
    [J]. GENETICS IN MEDICINE, 2010, 12 (11) : 742 - 745
  • [7] Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities
    Mason-Suares, Heather
    Kim, Wayne
    Grimmett, Leslie
    Williams, Eli S.
    Horner, Vanessa L.
    Kunig, Dawn
    Goldlust, Ian S.
    Wu, Bai-Lin
    Shen, Yiping
    Miller, David T.
    Martin, Christa L.
    Rudd, M. Katharine
    [J]. GENETICS IN MEDICINE, 2013, 15 (09) : 706 - 712
  • [8] Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
    Miller, David T.
    Adam, Margaret P.
    Aradhya, Swaroop
    Biesecker, Leslie G.
    Brothman, Arthur R.
    Carter, Nigel P.
    Church, Deanna M.
    Crolla, John A.
    Eichler, Evan E.
    Epstein, Charles J.
    Faucett, W. Andrew
    Feuk, Lars
    Friedman, Jan M.
    Hamosh, Ada
    Jackson, Laird
    Kaminsky, Erin B.
    Kok, Klaas
    Krantz, Ian D.
    Kuhn, Robert M.
    Lee, Charles
    Ostell, James M.
    Rosenberg, Carla
    Scherer, Stephen W.
    Spinner, Nancy B.
    Stavropoulos, Dimitri J.
    Tepperberg, James H.
    Thorland, Erik C.
    Vermeesch, Joris R.
    Waggoner, Darrel J.
    Watson, Michael S.
    Martin, Christa Lese
    Ledbetter, David H.
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (05) : 749 - 764
  • [9] Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants
    Pinto, Dalila
    Darvishi, Katayoon
    Shi, Xinghua
    Rajan, Diana
    Rigler, Diane
    Fitzgerald, Tom
    Lionel, Anath C.
    Thiruvahindrapuram, Bhooma
    MacDonald, Jeffrey R.
    Mills, Ryan
    Prasad, Aparna
    Noonan, Kristin
    Gribble, Susan
    Prigmore, Elena
    Donahoe, Patricia K.
    Smith, Richard S.
    Park, Ji Hyeon
    Hurles, Matthew E.
    Carter, Nigel P.
    Lee, Charles
    Scherer, Stephen W.
    Feuk, Lars
    [J]. NATURE BIOTECHNOLOGY, 2011, 29 (06) : 512 - U76
  • [10] American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing
    Rehder, Catherine W.
    David, Karen L.
    Hirsch, Betsy
    Toriello, Helga V.
    Wilson, Carolyn M.
    Kearney, Hutton M.
    [J]. GENETICS IN MEDICINE, 2013, 15 (02) : 150 - 152
12