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). 

CAH best practice meeting

The EMQN in conjunction with EuroGentest is organising a Congenital Adrenal Hyperplasia best practice meeting for genetic diagnostics. The aim of the meeting is to develop best practice guidelines for the molecular genetic diagnosis of CAH.

 The CAH meeting will take place on the 23^rd of June 2009, in Antwerp, Belgium.

Scientists may register their expressions of interest to attend the meetings by filling in an online form - see below for a link to the form. The period for submitting the expressions of interest finishes on the 17^th of April 2009. After this date, the EMQN staff will review all the expressions of interest and in the case where more than one scientist wishes to attend the meeting from your country, your EMQN national partner will select the most appropriate person. Confirmations for successful applicants will be send out after the 24^th of April 2009.

 Register here for the CAH meeting  

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) and the Swiss Society of Medical Genetics (SSMG).

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