European guidelines for constitutional cytogenomic analysis

Marisa Silva; Nicole de Leeuw; Kathy Mann; Heleen Schuring-Blom; Sian Morgan; Daniela Giardino; Katrina Rack; Ros Hastings

doi:10.1038/s41431-018-0244-x

European guidelines for constitutional cytogenomic analysis

Marisa Silva, Nicole de Leeuw, Kathy Mann, Heleen Schuring-Blom, Sian Morgan, Daniela Giardino, Katrina Rack, Ros Hastings^*

^*Corresponding author for this work

Research output: Contribution to journal › Review article › peer-review

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Abstract

With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.

Original language	English
Pages (from-to)	1-16
Number of pages	16
Journal	European Journal of Human Genetics
Volume	27
Issue number	1
DOIs	https://doi.org/10.1038/s41431-018-0244-x
Publication status	Published - 27 Jan 2019

Keywords

Cytogenetic Analysis/methods
European Union
Genetic Testing/methods
Practice Guidelines as Topic
Prenatal Diagnosis/methods
Societies, Medical

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10.1038/s41431-018-0244-x

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AU - Schuring-Blom, Heleen

AU - Morgan, Sian

AU - Giardino, Daniela

AU - Rack, Katrina

AU - Hastings, Ros

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N2 - With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.

AB - With advancing technology and the consequent shift towards an increasing application of molecular genetic techniques (e.g., microarrays, next-generation sequencing) with the potential for higher resolution in specific contexts, as well as the application of combined testing strategies for the diagnosis of chromosomal disorders, it is crucial that cytogenetic/cytogenomic services keep up to date with technology and have documents that provide guidance in this constantly evolving scenario. These new guidelines therefore aim to provide an updated, practical and easily available document that will enable genetic laboratories to operate within acceptable standards and to maintain a quality service.

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KW - European Union

KW - Genetic Testing/methods

KW - Practice Guidelines as Topic

KW - Prenatal Diagnosis/methods

KW - Societies, Medical

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European guidelines for constitutional cytogenomic analysis

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