EMQN-ERN GENTURIS: HBOC genetic testing guidelines
EMQN is honoured that ERN GENTURIS has decided to endorse our best practice guidelines: “EMQN best practice guidelines for genetic testing in hereditary breast and ovarian cancer (HBOC).” ERN GENTURIS is the European Reference Network (ERN) for all patients with rare genetic tumour risk syndromes. A team of assessors, consisting of HBOC experts and an […]
EAA/EMQN best practice guidelines for molecular diagnosis of Y-chromosomal microdeletions: State of the art 2023
[Correction added on 25 October 2023, after first online publication: Figure A1 has been replaced in this version.] Abstract Testing for AZoospermia Factor (AZF) deletions of the Y chromosome is a key component of the diagnostic workup of azoospermic and severely oligozoospermic men. This revision of the 2013 European Academy of Andrology (EAA) and EMQN […]
EMQN Best Practice Guidelines for Genetic Testing in Inherited Cardiomyopathies and Arrhythmias
Abstract Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure. Making a genetic diagnosis can inform the management of patients and their at-risk relatives and, as such, molecular genetic testing is now considered an integral component […]