TY - JOUR
T1 - European guidelines for constitutional cytogenomic analysis
AU - Silva, Marisa
AU - de Leeuw, Nicole
AU - Mann, Kathy
AU - Schuring-Blom, Heleen
AU - Morgan, Sian
AU - Giardino, Daniela
AU - Rack, Katrina
AU - Hastings, Ros
PY - 2019/1
Y1 - 2019/1
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.
U2 - 10.1038/s41431-018-0244-x
DO - 10.1038/s41431-018-0244-x
M3 - Review article
C2 - 30275486
VL - 27
SP - 1
EP - 16
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
SN - 1018-4813
IS - 1
ER -