European guidelines for constitutional cytogenomic analysis.
Eur J Hum Genet
; 27(1): 1-16, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-30275486
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Testes Genéticos
/
Guias de Prática Clínica como Assunto
/
Análise Citogenética
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article