EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Eggermann K1, Bliek J2, Brioude F3,4,5, Algar E6, Buiting K7, Russo S8, Tümer Z9, Monk D10, Moore G11, Antoniadi T12, Macdonald F12, Netchine I3,4,5,Lombardi P2, Soellner L1, Begemann M1, Prawitt D13, Maher ER14, Mannens M2, Riccio A15,16, Weksberg R17,18,19,20, Lapunzina P21, Grønskov K9,Mackay DJ22,23, Eggermann T1.

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Abstract

Molecular genetic testing for the 11p15-associated imprinting disorders Silver-Russell and Beckwith-Wiedemann syndrome (SRS, BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. With the growing knowledge on the molecular basis of these disorders and the demand for molecular testing, it turned out that there is an urgent need for a standardized molecular diagnostic testing and reporting strategy. Based on the results from the first external pilot quality assessment schemes organized by the European Molecular Quality Network (EMQN) in 2014 and in context with activities of the European Network of Imprinting Disorders (EUCID.net) towards a consensus in diagnostics and management of SRS and BWS, best practice guidelines have now been developed. Members of institutions working in the field of SRS and BWS diagnostics were invited to comment, and in the light of their feedback amendments were made. The final document was ratified in the course of an EMQN best practice guideline meeting and is in accordance with the general SRS and BWS consensus guidelines, which are in preparation. These guidelines are based on the knowledge acquired from peer-reviewed and published data, as well as observations of the authors in their practice. However, these guidelines can only provide a snapshot of current knowledge at the time of manuscript submission and readers are advised to keep up with the literature.European Journal of Human Genetics advance online publication, 11 May 2016; doi:10.1038/ejhg.2016.45.