Variability in interpreting and reporting copy number changes detected by array-based technology in clinical laboratories

被引：46

作者：

Tsuchiya, Karen D. ^{[1
,2
]}

Shaffer, Lisa G. ^{[3
]}

Aradhya, Swaroop ^{[4
]}

Gastier-Foster, Julie M. ^{[5
,6
,7
]}

Patel, Ankita ^{[8
]}

Rudd, M. Katharine ^{[9
]}

Biggerstaff, Julie Sanford ^{[10
,11
]}

Sanger, Warren G. ^{[12
]}

Schwartz, Stuart ^{[13
,14
]}

Tepperberg, James H. ^{[13
]}

Thorland, Erik C. ^{[15
]}

Torchia, Beth A. ^{[3
]}

Brothman, Arthur R. ^{[16
]}

机构：

[1] Seattle Childrens Hosp, Dept Labs, Seattle, WA 98105 USA

[2] Univ Washington, Sch Med, Dept Lab Med, Seattle, WA 98195 USA

[3] Signature Genom Labs, Spokane, WA USA

[4] GeneDx, Gaithersburg, MD USA

[5] Ohio State Univ, Dept Pathol & Lab Med, Nationwide Childrens Hosp, Columbus, OH 43210 USA

[6] Ohio State Univ, Dept Pathol, Columbus, OH 43210 USA

[7] Ohio State Univ, Dept Pediat, Columbus, OH 43210 USA

[8] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[9] Emory Univ, Sch Med, Dept Human Genet, Atlanta, GA USA

[10] Idaho Cytogenet Diagnost Lab, Boise, ID USA

[11] Providence Associates Med Labs, Spokane, WA USA

[12] Univ Nebraska Med Ctr, Dept Pediat, Munroe Meyer Inst, Omaha, NE USA

[13] Lab Corp Amer, Res Triangle Pk, NC USA

[14] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

[15] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA

[16] Univ Utah, Dept Pathol, ARUP Labs, Salt Lake City, UT USA

来源：

GENETICS IN MEDICINE | 2009年 / 11卷 / 12期

关键词：

array CGH; deletion; duplication; interpretation; reporting; MENTAL-RETARDATION; RECOMMENDATIONS; DUPLICATIONS; DELETIONS; 1Q21.1;

D O I：

10.1097/GIM.0b013e3181c0c3b0

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Purpose: The purpose of this study was to assess the variability in interpretation and reporting of copy number changes that are detected by array-based technology in the clinical laboratory. Methods: Thirteen different copy number changes, detected by array comparative genomic hybridization, that have not been associated with an abnormal phenotype in the literature were evaluated by directors from I I different clinical laboratories to determine how they would interpret and report the findings. Results: For none of the thirteen copy number changes was there complete agreement in the interpretation of the clinical significance of the deletion or duplication. For some cases, the interpretations ranged from normal to abnormal. Conclusion: There is a need for more specific guidelines for interpreting and reporting copy number changes detected by array-based technology to clearly and more consistently communicate the clinical significance of these findings to ordering providers. Genet Med 2009:11(12):866-873.

引用

页码：866 / 873

页数：8

共 18 条

[1] Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2 [J].

Ballif, B. C. ;

Theisen, A. ;

McDonald-McGinn, D. M. ;

Zackai, E. H. ;

Hersh, J. H. ;

Bejjani, B. A. ;

Shaffer, L. G. .

CLINICAL GENETICS, 2008, 74 (05) :469-475

[2]

Brothman AR, 2006, ARCH PATHOL LAB MED, V130, P947

[3] Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities [J].

Brunetti-Pierri, Nicola ;

Berg, Jonathan S. ;

Scaglia, Fernando ;

Belmont, John ;

Bacino, Carlos A. ;

Sahoo, Trilochan ;

Lalani, Seema R. ;

Graham, Brett ;

Lee, Brendan ;

Shinawi, Marwan ;

Shen, Joseph ;

Kang, Sung-Hae L. ;

Pursley, Amber ;

Lotze, Timothy ;

Kennedy, Gail ;

Lansky-Shafer, Susan ;

Weaver, Christine ;

Roeder, Elizabeth R. ;

Grebe, Theresa A. ;

Arnold, Georgianne L. ;

Hutchison, Terry ;

Reimschisel, Tyler ;

Amato, Stephen ;

Geragthy, Michael T. ;

Innis, Jeffrey W. ;

Obersztyn, Ewa ;

Nowakowska, Beata ;

Rosengren, Sally S. ;

Bader, Patricia I. ;

Grange, Dorothy K. ;

Naqvi, Sayed ;

Garnica, Adolfo D. ;

Bernes, Saunder M. ;

Fong, Chin-To ;

Summers, Anne ;

Walters, W. David ;

Lupski, James R. ;

Stankiewicz, Pawel ;

Cheung, Sau Wai ;

Patel, Ankita .

NATURE GENETICS, 2008, 40 (12) :1466-1471

[4]

Buchanan JA, 2008, GENET MED, V10, P639, DOI [10.1097/GIM.0b013e318183f848, 10.1097GIM.0b013e318183f848]

[5]

*CAP CYT RES COMM, 2008, COMP GEN HYBR MICR P

[6] Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization [J].

Fan, Yao-Shan ;

Jayakar, Parul ;

Zhu, Hongbo ;

Barbouth, Deborah ;

Sacharow, Stephanie ;

Morales, Ana ;

Carver, Virginia ;

Benke, Paul ;

Mundy, Peter ;

Elsas, Louis J. .

HUMAN MUTATION, 2007, 28 (11) :1124-1132

[7] Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant [J].

Hannes, F. D. ;

Sharp, A. J. ;

Mefford, H. C. ;

de Ravel, T. ;

Ruivenkamp, C. A. ;

Breuning, M. H. ;

Fryns, J-P ;

Devriendt, K. ;

Van Buggenhout, G. ;

Vogels, A. ;

Stewart, H. ;

Hennekam, R. C. ;

Cooper, G. M. ;

Regan, R. ;

Knight, S. J. L. ;

Eichler, E. E. ;

Vermeesch, J. R. .

JOURNAL OF MEDICAL GENETICS, 2009, 46 (04) :223-232

[8] Detection of large-scale variation in the human genome [J].

Iafrate, AJ ;

Feuk, L ;

Rivera, MN ;

Listewnik, ML ;

Donahoe, PK ;

Qi, Y ;

Scherer, SW ;

Lee, C .

NATURE GENETICS, 2004, 36 (09) :949-951

[9] Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic Disease [J].

Itsara, Andy ;

Cooper, Gregory M. ;

Baker, Carl ;

Girirajan, Santhosh ;

Li, Jun ;

Absher, Devin ;

Krauss, Ronald M. ;

Myers, Richard M. ;

Ridker, Paul M. ;

Chasman, Daniel I. ;

Mefford, Heather ;

Ying, Phyllis ;

Nickerson, Deborah A. ;

Eichler, Evan E. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2009, 84 (02) :148-161

[10] Genomic Microarrays in Mental Retardation: A Practical Workflow for Diagnostic Applications [J].

Koolen, David A. ;

Pfundt, Rolph ;

de Leeuw, Nicole ;

Hehir-Kwa, Jayne Y. ;

Nillesen, Willy M. ;

Neefs, Ineke ;

Scheltinga, Ine ;

Sistermans, Erik ;

Smeets, Dominique ;

Brunner, Han G. ;

van Kessel, Ad Geurts ;

Veltman, Joris A. ;

de Vries, Bert B. A. .

HUMAN MUTATION, 2009, 30 (03) :283-292

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