Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes

Eur J Hum Genet. 2019 Sep;27(9):1326-1340. doi: 10.1038/s41431-019-0435-0. Epub 2019 Jun 24.

Abstract

This article is an update of the best practice guidelines for the molecular analysis of Prader-Willi and Angelman syndromes published in 2010 in BMC Medical Genetics [1]. The update takes into account developments in terms of techniques, differential diagnoses and (especially) reporting standards. It highlights the advantages and disadvantages of each method and moreover, is meant to facilitate the interpretation of the obtained results - leading to improved standardised reports.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Angelman Syndrome / diagnosis*
  • Angelman Syndrome / genetics*
  • DNA Methylation
  • Diagnosis, Differential
  • Disease Management
  • Epigenesis, Genetic
  • Female
  • Genetic Association Studies / methods
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genetic Variation
  • Humans
  • Molecular Diagnostic Techniques*
  • Practice Guidelines as Topic*
  • Prader-Willi Syndrome / diagnosis*
  • Prader-Willi Syndrome / genetics*
  • Pregnancy
  • Prenatal Diagnosis
  • Referral and Consultation