Best Practice Best Practice

To participate in a best practice meeting you must be a registered member of the network. Following the meeting, draft best practice guidelines are produced and published on this and other related websites, for example in the best practice guidelines of the UK Clinical Molecular Genetics Society (CMGS) and the Swiss Society of Medical Genetics (SSMG).

Best practice guidelines resulting from meetings organised by EMQN can be downloaded from the list below:

 

 

 
 
Current Documents
 

Current guidelines upto 4 years old. Guidelines older than 4 years have been retired - see below.

Duchenne and Becker Muscular Dystrophies
v 2010,
e-publication, Journal (NMD, Volume 20, Issue 6, Pages 422-427 (June 2010).,
Approved.

URL of document is here.
 

 
Fragile-X Syndrome
v 2014,
e-publication,
Approved.
 
Hereditary Breast and Ovarian Cancer
v 2008,
e-publication,
Approved.
 
Hereditary Recurrent Fevers
v Ann Rheum Dis (2012) 71:1599-1605,
Approved.

URL of document is here

 
Hereditary Sensory and Motor Neuropathies
v 2006,
e-publication,
Approved.
 
Huntington Disease
v 2012 e-publication,
Approved.

URL of document here

 
Maturity Onset Diabetes of the Young
v 2008,
e-publication, Journal ( Diabetologia, Volume 51, Number 4 / April, 2008),
Approved.
 
Myotonic Dystrophy
v European Journal of Human Genetics (2012) 20:1203-1208,
Approved.
 
Osteogenesis Imperfecta
v 2012,
European Journal of Human Genetics (2012) 20:11-19,
Approved.

URL of document is here

 
Prader-Willi / Angelman Syndromes
v 2010,
e-publication, Journal (BMC Medical Genetics 2010, 11:7),
Approved.

URL of document is here

 
Spinocerebellar Ataxia's (2010)
v 2010,
e-publication, Journal (EJHG Feb 2010),
Approved.
 
 
In Preparation
 

Guidelines in preparation following a best practice meeting.

Cardiac Genetics (Long QT Syndrome)
v 2010,
e-publication, Journal,
In preparation.
 
Congenital Adrenal Hyperplasia
v 2010 ,
e-publication, Journal,
In preparation.
 
Haemoglobinopathies
v 2013,
e-publication, Journal,
In preparation.
 
Hereditary Deafness
v 2010,
e-publication, Journal,
In preparation.
 
Neurofibromatosis Type 1
v 2010,
e-publication, Journal,
Best practice meeting - 16th June 2010.

Joint meeting between EMQN and CMGS

 
 
Retired Documents
 

Retired Guidelines - If you require copies of retired documents, please contact Outi Kamarainen (office@emqn.org).

Friedreich ataxia
v 2000,
e-publication,
Retired .
 
Internal Quality Control
v 2002,
e-publication,
Retired.
 
Retinoblastoma
v 2002,
e-publication,
Retired.
 
Spinal Muscular Atrophy
v 2001,
e-publication,
Retired.
 
Y-Chromosome microdeletions
v 2004,
e-publication,
Retired.
 
 
Other Information
 

Links to other sites hosting practice guidelines:

 

 

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