Harmonisation of testing practice through best practice

EMQN is actively promoting 'best practice' meetings on individual diseases. To assist in this process, EMQN has organised best practice meetings. To participate you must be a registered member of the network. Following the meeting, draft best practice guidelines are produced and publised on this and other related websites, for example, the web site of the UK Clinical Molecular Genetics Society (CMGS). 

Best Practice Guidelines

Disease-specific best practice guidelines resulting from meetings organised by EMQN can be downloaded from the list below:

» Hereditary Breast and Ovarian Cancer (2008) – PDF-File, 175.7 KB

» Fragile-X Syndrome (2006) – PDF-File, 507.1 KB

» Friedreich Ataxia (2000) – PDF-File, 93.6 KB

» Haemoglobinopathies (2002) – PDF-File, 252.4 KB

» Hereditary Sensory and Motor Neuropathies (2006) – PDF-File, 237.9 KB

» Maturity Onset Diabetes of the Young (MODY) (2007) – PDF-File, 178.6 KB

» Prader-Willi / Angelman Syndromes (2008)

» Retinoblastoma (2002) – PDF-File, 91.9 KB

» Spinal Muscular Atrophy (2001) – PDF-File, 69.2 KB

» Y Chromosome Microdeletions (2004) – PDF-File, 136.2 KB

Non disease-specific best practice guidelines resulting from meetings organsied by EMQN.

» Internal Quality Control (2002) – PDF-File, 82.0 KB

Other best practice guidelines can be found on the websites of the UK Clinical Molecular Genetics Society (UK CMGS), EuroGentest and the Swiss Society of Medical Genetics (SSMG).

The Swiss Society of Medical Genetics guidelines for reporting can be found here.