Chromosome microarray proficiency testing and analysis of quality metric data trends through an external quality assessment program for Australasian laboratories

被引：0

作者：

Wright, D. C. ^{[1
]}

Adayapalam, N. ^{[2
]}

Bain, N. ^{[3
]}

Bain, S. M. ^{[4
]}

Brown, A. ^{[5
]}

Buzzacott, N. ^{[6
]}

Carey, L. ^{[1
]}

Cross, J. ^{[1
]}

Dun, K. ^{[7
]}

Joy, C. ^{[8
]}

McCarthy, C. ^{[9
]}

Moore, S. ^{[4
]}

Murch, A. R. ^{[10
]}

O'Malley, F. ^{[11
]}

Parker, E. ^{[12
]}

Watt, J. ^{[12
]}

Wilkin, H. ^{[13
]}

Fagan, K. ^{[14
]}

Pertile, M. D. ^{[15
]}

Peters, G. B. ^{[1
]}

机构：

[1] Childrens Hosp, Westmead, NSW, Australia

[2] Royal Brisbane Hosp, Brisbane, Qld, Australia

[3] Hunter Area Pathol, Newcastle, NSW, Australia

[4] SA Pathol, Adelaide, SA, Australia

[5] Wellington Hosp, Wellington, New Zealand

[6] Western Genome Diagnost, Perth, WA, Australia

[7] Royal Hobart Hosp, Hobart, Tas, Australia

[8] Mater Hosp, Brisbane, Qld, Australia

[9] Queensland Fertil Grp, Brisbane, Qld, Australia

[10] QEII Med Ctr, Pathwest Lab Med WA, Nedlands, WA, Australia

[11] St Vincents Hosp, Melbourne, Vic, Australia

[12] Canterbury Hlth Labs, Christchurch, New Zealand

[13] Monash Med Ctr, Melbourne, Vic, Australia

[14] John Hunter Hosp, Hunter Area Pathol Serv, Newcastle, NSW, Australia

[15] Murdoch Childrens Res Inst, Melbourne, Vic, Australia

来源：

PATHOLOGY | 2016年 / 48卷 / 06期

关键词：

Proficiency testing; chromosome microarray; quality improvement; CONSTITUTIONAL GENETIC DIAGNOSIS; HYBRIDIZATION ARRAY-CGH; MENTAL-RETARDATION; OLIGONUCLEOTIDE MICROARRAY; ABNORMALITIES; CHILDREN; IMBALANCES; CHALLENGES; GUIDELINES;

D O I：

10.1016/j.pathol.2016.05.009

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Chromosome microarrays are an essential tool for investigation of copy number changes in children with congenital anomalies and intellectual deficit. Attempts to standardise microarray testing have focused on establishing technical and clinical quality criteria, however external quality assessment programs are still needed. We report on a microarray proficiency testing program for Australasian laboratories. Quality metrics evaluated included analytical accuracy, result interpretation, report completeness, and laboratory performance data: sample numbers, success and abnormality rate and reporting times. Between 2009 and 2014 nine samples were dispatched with variable results for analytical accuracy (30-100%), correct interpretation (32-96%), and report completeness (30-92%). Laboratory performance data (2007-2014) showed an overall mean success rate of 99.2% and abnormality rate of 23.6%. Reporting times decreased from >90 days to <30 days for normal results and from >102 days to <35 days for abnormal results. Data trends showed a positive correlation with improvement for all these quality metrics, however only 'report completeness' and reporting times reached statistical significance. Whether the overall improvement in laboratory performance was due to participation in this program, or from accumulated laboratory experience over time, is not clear. Either way, the outcome is likely to assist referring clinicians and improve patient care.

引用

页码：586 / 596

页数：11

共 31 条

[1]

[Anonymous], 2012, ECA NEWSL

[2]

Association for Clinical Cytogenetics, PROF GUID CLIN CYT C

[3]

Australasian Society of Diagnostic Genomics Quality Assessment Program (ASDG QAP), 2015, 2015GL01 ASDG QAP

[4] Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray [J].

Baldwin, Erin L. ;

Lee, Ji-Yun ;

Blake, Douglas M. ;

Bunke, Brian P. ;

Alexander, Chad R. ;

Kogan, Amy L. ;

Ledbetter, David H. ;

Martin, Christa L. .

GENETICS IN MEDICINE, 2008, 10 (06) :415-429

[5] College of American Pathologists/American College of Medical Genetics proficiency testing for constitutional cytogenomic microarray analysis [J].

Brothman, Arthur R. ;

Dolan, Michelle M. ;

Goodman, Barbara K. ;

Park, Jonathan P. ;

Persons, Diane L. ;

Saxe, Debra F. ;

Tepperberg, James H. ;

Tsuchiya, Karen D. ;

Van Dyke, Daniel L. ;

Wilson, Kathleen S. ;

Wolff, Daynna J. ;

Theil, Karl S. .

GENETICS IN MEDICINE, 2011, 13 (09) :765-769

[6] Challenges for CNV interpretation in clinical molecular karyotyping: Lessons learned from a 1001 sample experience [J].

Buysse, Karen ;

Delle Chiaie, Barbara ;

Van Coster, Rudy ;

Loeys, Bart ;

De Paepe, Anne ;

Mortier, Geert ;

Speleman, Frank ;

Menten, Bjoern .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (06) :398-403

[7]

Canadian College of Medical Genetecists (CCMG), 2010, CCMG GUID GEN MICR T

[8] Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic) [J].

Claustres, Mireille ;

Kozich, Viktor ;

Dequeker, Els ;

Fowler, Brain ;

Hehir-Kwa, Jayne Y. ;

Miller, Konstantin ;

Oosterwijk, Cor ;

Peterlin, Borut ;

van Ravenswaaij-Arts, Conny ;

Zimmermann, Uwe ;

Zuffardi, Orsetta ;

Hastings, Ros J. ;

Barton, David E. .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2014, 22 (02) :160-170

[9] Diagnostic genome profiling in mental retardation [J].

de Vries, BBA ;

Pfundt, R ;

Leisink, M ;

Koolen, DA ;

Vissers, LELM ;

Janssen, IM ;

van Reijmersdal, S ;

Nillesen, WM ;

Huys, EHLPG ;

de Leeuw, N ;

Smeets, D ;

Sistermans, EA ;

Feuth, T ;

van Ravenswaaij-Arts, CMA ;

van Kessel, AG ;

Schoenmakers, EFPM ;

Brunner, HG ;

Veltman, JA .

AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 77 (04) :606-616

[10] Influence of segmental chromosome abnormalities on survival in children over the age of 12 months with unresectable localised peripheral neuroblastic tumours without MYCN amplification [J].

Defferrari, R. ;

Mazzocco, K. ;

Ambros, I. M. ;

Ambros, P. F. ;

Bedwell, C. ;

Beiske, K. ;

Benard, J. ;

Berbegall, A. P. ;

Bown, N. ;

Combaret, V. ;

Couturier, J. ;

Erminio, G. ;

Gambini, C. ;

Garaventa, A. ;

Gross, N. ;

Haupt, R. ;

Kohler, J. ;

Jeison, M. ;

Lunec, J. ;

Marques, B. ;

Martinsson, T. ;

Noguera, R. ;

Parodi, S. ;

Schleiermacher, G. ;

Tweddle, D. A. ;

Valent, A. ;

Van Roy, N. ;

Vicha, A. ;

Villamon, E. ;

Tonini, G. P. .

BRITISH JOURNAL OF CANCER, 2015, 112 (02) :290-295

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