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Update of the EMQN/ACGS best practice guidelines for molecular analysis of Prader-Willi and Angelman syndromes.
- Source :
-
European journal of human genetics : EJHG [Eur J Hum Genet] 2019 Sep; Vol. 27 (9), pp. 1326-1340. Date of Electronic Publication: 2019 Jun 24. - Publication Year :
- 2019
-
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.
- Subjects :
- DNA Methylation
Diagnosis, Differential
Disease Management
Epigenesis, Genetic
Female
Genetic Association Studies methods
Genetic Predisposition to Disease
Genetic Testing
Genetic Variation
Humans
Pregnancy
Prenatal Diagnosis
Referral and Consultation
Angelman Syndrome diagnosis
Angelman Syndrome genetics
Molecular Diagnostic Techniques
Practice Guidelines as Topic
Prader-Willi Syndrome diagnosis
Prader-Willi Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1476-5438
- Volume :
- 27
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- European journal of human genetics : EJHG
- Publication Type :
- Academic Journal
- Accession number :
- 31235867
- Full Text :
- https://doi.org/10.1038/s41431-019-0435-0