Download our Best Practice guidelines or watch a webinar to learn more about genomic testing excellence

Best Practice

The EMQN community is committed to educating genomic diagnostic service providers in providing the best possible service. We do this through regularly publishing best practice guidelines on the optimum way to test for and report on a wide range of specific diseases. We have adopted an internationally robust method of crafting our guidelines to ensure they are credible and comprehensive.

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Our guidelines below are freely available to view and download below.

Best Practice Guideline (BPG)

Feb 2008
Genomic & inherited disorders

Maturity-onset diabetes of the young

Funding for the best practice meeting was provided by the EuroGentest Network of Excellence Project 2005- EU Contract No FP6-512148 (www.eurogentest.org) and EMQN.

Best Practice Guideline (BPG)

Feb 2002
Genomic & inherited disorders

Retinoblastoma

Prepared in 2002 and requiring major update. They are included for reference-only.

Best Practice Guideline (BPG)

Feb 2001
Genomic & inherited disorders

Spinal Muscular Atrophy

Guidelines resulting from a best practice meeting funded by EMQN in Groningen, The Netherlands on 21 September 2000.

Best Practice Guideline (BPG)

Feb 2000
Genomic & inherited disorders

Hereditary Sensory and Motor Neuropathies

These guidelines are the result of a workshop funded by EMQN in Amsterdam,on the 27th May 2000.

Best Practice Guideline (BPG)

Feb 2000
Genomic & inherited disorders

Friedreich Ataxia

Guidelines prepared by Fergus Ryan following discussions at an EMQN workshop 30th June 2000. Available for reference-only.

Best Practice Guideline (BPG)

Feb 2008
Genomic & inherited disorders

Maturity-onset diabetes of the young

Funding for the best practice meeting was provided by the EuroGentest Network of Excellence Project 2005- EU Contract No FP6-512148 (www.eurogentest.org) and EMQN.