We are currently preparing a pilot EQA scheme for 2012 which will assess NextGen sequencing technology. The scheme is a collaboration between EMQN and the UKNEQAS for molecular genetics.

Please complete our online survey to register an interest in participating in this pilot EQA. The survey is available from Monday 12th December 2011 until Friday 13th January 2012.
 

The results of our 2011 EMQN user survey have been published - click this link to see what our users think of our services.

We will be expanding out reportoire for molecular histopathology in 2012 by offering a pilot scheme for BRAF testing in melanoma.

Registration for the 2011 EQA schemes is now open. Please click on the schemes page of this website to access the online scheme catalogue. Alternatively, you can also download an electronic copy from the same page.

We are organising a pilot EQA scheme for molecular genetic analysis of EGFR in non-small cell lung cancer. We are delighted to offer this EQA as a collaboration between the EMQN, the European Society of Pathology (ESP), the European Thoracic Oncology Platform (ETOP) and the European Society of Medical Oncology (ESMO). The routine testing for EGFR mutations often involves individuals from both pathology and molecular genetic laboratories, as well as clinical colleagues, and therefore our collaboration reflects the nature of this interaction. We hope that the expertise from all three disciplines will help us provide a useful EQA pilot scheme.

If you are interested in participating in the pilot, please register via the scheme registration facility which is available to registered EMQN members. Please also note that registration does not guarantee participation in the pilot. Numbers are strictly limited and EMQN and its partners will decide which labs will participate to allow the best test of the scheme design. There is no fee for participation in the pilot.

In association with the Manchester Academic Health Science Centre, EMQN is facilitating a pilot EQA scheme for Aicardi-Goutieres syndrome related genes. Participation in this scheme is free, will enable inter-lab comparison, and help the development of consensus guidelines for laboratories diagnosing Aicardi-Goutieres, familial chilblain lupus, retinal vasculopathy with cerebral leukodystrophy, and some cases of systemic lupus erythematosus. Samples will be dispatched to participating laboratories in June 2011.

To participate, please email Beverley Nicholas (Tel: +44 (0)16127 63265; Fax: +44 (0)16127 66606) Including a contact name, full laboratory address and telephone number by the end of May 2011.

Thank you for your time,

Professor Yanick Crow, Beverley Nicholas
 

Please note - EMQN is not organising this scheme. EMQN's role is strictly limited to consultancy on design and organisation, along with notifying EMQN participants of its availability. We therefore accept no responsibility for actions taken by the organising centre.

Short stature affects approximately 2-3 % of children. It represents one of the more common conditions for which clinical attention is sought during childhood. A relatively frequent cause of genetically determined short stature is the deficiency of the SHOX protein. SHOX is required for normal growth via regulation of skeletal development. It is estimated that mutations affecting the SHOX-gene are the underlying cause for short stature in 5% of the cases. The mutations result in a wide spectrum of short stature phenotypes, including symptoms of Turner syndrome (TS), Leri-Weill syndrome (LWS), short stature without any specific features (idiopathic short stature, ISS) and Langer mesomelic dysplasia (LMS).

SHOX is located in the pseudoautosomal region (PAR1) of the X and Y chromosomes. About 77% of the mutations are deletions in the SHOX critical region. Point mutations can also occur as a molecular cause of short stature, thus for cases with excluded deletion a sequence analysis has to be performed.

A world-wide clinical study has shown a beneficial effect on growth of children affected with SHOX-deficiency by administration of human growth hormone (GH). Based on this study, GH substitution has been FDA approved for these patients. A prerequisite for the treatment with GH is the molecular analysis of SHOX and detection of an alteration affecting this gene. Thus, the genetic testing of SHOX for patients with short stature can be considered as a typical example for personalized medicine.

The detection rate of deletions is varying between the different laboratories offering the diagnostics because of the various techniques that are applied. EMQN is offering a pilot scheme for SHOX testing in 2011 - there is no fee for participation if you register in fee period 1.
 

The 2010schemes have been completed a copy of our annual EQA report is available for you to download from your website account. Alternatively, you can download a copy from below.

• 2010 Annual EQA scheme report

EMQN has received written confirmation of its acceptance from the United Kingdom Accreditation Service (UKAS)  that its  systems meet the requirements of the International EQA scheme standard ISO 17043. A huge amount of work has gone in to this and we are delighted to have achieved it. In the next few months we should be able to complete all the outstanding paperwork relating to the process and will then display the accreditation logo of UKAS on all our documentation.

From May 1st 2011 EMQN members can subscribe to the Diagnostic Mutation Database (DMuDB), a repository of clinical quality variant data, developed by NGRL to provide diagnostic laboratories with support for data sharing and interpretation. EMQN members can purchase an annual subscription to DMuDB along with the regular EMQN schemes, and will gain access to the database when it is launched internationally by August 2011.

Initially set up as part of a UK Government Department of Health initiative to support UK diagnostic genetics laboratories, DMuDB has proven to be a successful and important resource for UK labs. Access is now being extended to laboratories outside the UK, through EMQN, as part of a planned expansion and development programme, and a move towards a long-term sustainable model.

As part of the expansion of DMuDB, the NGRL team will be embarking on a tour of the DMuDB community of laboratories to provide training and support in the use of the database, and to collect any data that labs wish to upload to the database.

A document containing further information about DMuDB is available – contact Kathryn Robertson, Project Manager, NGRL (kathryn.robertson@cmft.nhs.uk or +44 (0)161 276 8716).