Title: Guidelines for molecular karyotyping in constitutional genetic diagnosis
Authors: Vermeesch, Joris ×
Fiegler, Heike
de Leeuw, Nicole
Szuhai, Karoly
Schoumans, Jacqueline
Ciccone, Roberto
Speleman, Frank
Rauch, Anita
Clayton-Smith, Jill
Van Ravenswaaij, Conny
Sanlaville, Damien
Patsalis, Philippos C
Firth, Helen
Devriendt, Koenraad
Zuffardi, Orsetta #
Issue Date: Nov-2007
Series Title: European Journal of Human Genetics vol:15 issue:11 pages:1105-1114
Abstract: Array-based whole genome investigation or molecular karyotyping enables the genome-wide detection of submicroscopic imbalances. Proof-of-principle experiments have demonstrated that molecular karyotyping outperforms conventional karyotyping with regard to detection of chromosomal imbalances. This article identifies areas for which the technology seems matured and areas that require more investigations. Molecular karyotyping should be part of the genetic diagnostic work-up of patients with developmental disorders. For the implementation of the technique for other constitutional indications and in prenatal diagnosis, more research is appropriate. Also, the article aims to provide best practice guidelines for the application of array comparative genomic hybridisation to ensure both technical and clinical quality criteria that will optimise and standardise results and reports in diagnostic laboratories. In short, both the specificity and the sensitivity of the arrays should be evaluated in every laboratory offering the diagnostic test. Internal and external quality control programmes are urgently needed to evaluate and standardise the test results between laboratories.
ISSN: 1018-4813
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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