*2012 EQA Schemes*
UK NEQAS for Molecular Genetics will be offering the following full interpretative disease EQA schemes during 2012:
- Cystic fibrosis (CF)
- Duchenne & Becker muscular dystrophies (D/BMD)
- Familial adenomatous polyposis (FAP)
- Familial breast and ovarian cancer (BRCA)
- Fragile X syndrome (FRAX)
- HMSN & HNPP
- Hereditary non-polyposis colon cancer (HNPCC)
- Huntington disease (HD)
- Maternal cell contamination with sexing (MCC & sexing)
- Medium chain acyl CoA dehydrogenase deficiency molecular scheme (MCADD)
- Mitochondrial diseases (mtDNA)
- Molecular rapid aneuploidy scheme (MRA) - Further details given below
- Prader Willi syndrome and Angelman syndrome (PWS&AS)
- Spinal muscular atrophy (SMA)
These EQAs are only open to laboratories in the UK, Ireland and Netherlands. If you have not previously participated in a UK NEQAS for Molecular Genetics EQA scheme then please contact the Scheme Organiser (info@ukneqas-molgen.org.uk) for further information.
*Scheme dates for full interpretation EQAs*
- Online scheme registration - open until 31st March, 2012
- Sample distributions (disease dependent) - 25th June, 2012 and 6th August, 2012
- Report submission deadline - 14th September, 2012
- Annual report published - 23rd November, 2012
- Appeals period - 23rd November, 2012 to 14th December, 2012
- Final scores and final report published - 20th December, 2012
*Genotyping only EQAs 2012*
There will be two genotyping only EQAs offered during 2012:
BRCA2 full gene screening EQA. This scheme will involve testing one sample which will be dispatched in the first sample distribution for the full interpretative schemes. This will allow 12 weeks for testing (see above for dates).
The Microsatellite instability testing pilot EQA for 2012 has been developed. Three pairs of normal and tumour DNA samples will be distributed and participants will be required to test and report their genotyping results. Samples will be dispatched in the first sample distribution for the full interpretative schemes. This will allow 12 weeks for testing (see above for dates). Participants will also be required to submit their raw data to allow an assessment of how markers are assigned stability or instability.
*Interpretation only EQAs 2012*
UK NEQAS for Molecular Genetics is offering interpretation only EQAs during 2012. Clinical case scenarios and genotyping results will be made available to participants and they will be required to submit a full interpretative report for each case. There will be three cases for each disease EQA. These are web-based schemes and no samples will be distributed.
The following disease interpretation only EQAs are offered for 2012: - Familial hypercholesterolaemia (FH)
- Long QT syndrome (LongQT) - NEW FOR 2012
- Myotonic dystrophy type I (DM)
- MUTYH-associated polyposis (MAP)
- POLG testing (POLG)
- Rett syndrome (Rett)
Also new for 2012 - UK NEQAS for Molecular Genetics is pleased to provide a pilot EQA for the pathogenicity of seuqence variants. This pilot EQA will be interpretation only and full details will be available shortly.
*Scheme dates for web-based interpretation EQAs* - Online scheme registration - open until 31st March, 2012
- Cases distributed - 6th August, 2012
- Report submission deadline - 14th September, 2012
- Annual report published - 23rd November, 2012
- Appeals period - 23rd November, 2012 to 14th December, 2012
- Final scores and final report published - 20th December, 2012
*Molecular testing on blood spots*
The following blood spots EQA schemes are available for 2012-13.
*Cystic fibrosis molecular testing on blood spots*
This scheme is now solely provided by UK NEQAS for Molecular Genetics. We would like to thank the National Genetics Reference Laboratory (Manchester) for all their help and support with this EQA scheme.
This scheme has been upgraded to now assess molecular testing throughout the year. Three blood spot cards will be distributed to participants four times per year. Participants only need to register for this EQA once and they will automatically will be entered for all four distributions.
*MCADD molecular testing on blood spots*
This scheme follows the same format as the CF testing on blood spots scheme. Three blood spot cards will be distributed to participants four times per year and theywill be required to test for the common MCADD mutation (c.985A>G). Participants only need to register for this EQA once and they will automatically will be entered for all four distributions.
We would like to thank the Birmingham Children's Hospital for all their help in setting up this EQA scheme.
We also aim to develop the pilot scheme for MCADD extended mutation screening. Full details will be circulated to intereted parties. If your laboratory is interested in participating then please contact the Scheme Organiser.
*Molecular Rapid Aneuploidy Scheme 2012*
Three clinical case scenarios and corresponding DNA samples are distributed for this EQA scheme. Participants are required to test the samples following their normal testing proceedure and submit full interpretative reports.This EQA scheme is open to all laboratories (UK and non-UK).
This EQA scheme is offered in collaboration with UK NEQAS for Clinical Cytogenetics. If you require any further information please contact the Scheme Organiser on info@ukneqas-molgen.org.uk. The key dates are given below:
- Online scheme registration - until 31st March, 2012
- Sample distribution - 3rd September, 2012
- Report submission deadline - 28th September, 2012
*GIST EQA 2012*
Over the past few years there have been significant advances in the management of gastro-intestinal stromal tumours (GISTs) and molecular testing of and is now becoming widespread. Following the success of previous pilot schemes, UK NEQAS for Molecular Genetics offers a full genotyping only EQA scheme.
Participants are required to test tumour samples for changes in the
KIT and
PDGFRA genes and report their genotyping results.
If you would like further information on this GIST pilot EQA please contact the UK NEQAS for Molecular Genetics Scheme Organiser (
info@ukneqas-molgen.org.uk).
*KRAS Pilot EQA 2012-13*
UK NEQAS for Molecular Genetics and UK NEQAS for Immunocytochemistry and In-Situ Hybridisation are delighted to offer a pilot EQA for molecular genetic analysis of KRAS in colorectal cancer. The routine testing for KRAS mutations often involves a collaboration between pathology and molecular genetics laboratories and therefore our collaboration reflects the nature of this interaction. We hope that the expertise from both disciplines will help us provide a useful EQA scheme.
The format of the 2012-13 scheme has been developed from previous years to include three rounds of EQA. Each round will comprise of 3 tumour samples for testing. Participants will be given a choice of slide mounted paraffin embedded tumour tissue or rolled sections (or both). Laboratories will be assessed on genotyping accuracy, interpretation of the results and clerical accuracy of the reports.
Samples will be distributed as follows:
-
Round 1 - April 2012
-
Round 2 - September 2012
-
Round 3 - January 2013
Laboratories need only register for the first round of EQA in order to receive the three sample distributions.
If you require any further information then please contact the Scheme Organiser on info@ukneqas-molgen.org.uk.
*EGFR EQA 2012-13*
UK NEQAS for Molecular Genetics and UK NEQAS for Immunocytochemistry and In-Situ Hybridisation are delighted to offer a pilot EQA for molecular genetic analysis of EGFR in non-small cell lung colorectal cancer. The routine testing for EGFR mutations often involves a collaboration between pathology and molecular genetics laboratories and therefore our collaboration reflects the nature of this interaction. We hope that the expertise from both disciplines will help us provide a useful EQA scheme.
As with the KRAS pilot EQA, the format of the 2012-13 EGFR EQA has been developed to include three rounds of EQA. Each round will comprise of 3 tumour samples for testing. Participants will be given a choice of slide mounted paraffin embedded tumour tissue or rolled sections (or both). Laboratories will be assessed on genotyping accuracy, interpretation of the results and clerical accuracy of the reports.
Samples will be distributed as follows:
-
Round 1 - April 2012
-
Round 2 - September 2012
-
Round 3 - January 2013
Laboratories need only register for the first round of EQA in order to receive the three sample distributions.
If you require any further information then please contact the Scheme Organiser on info@ukneqas-molgen.org.uk.
*Preimplantation Genetic Diagnosis Molecular Testing EQA 2011-12*
UK NEQAS for Molecular Genetics and the European Society of Human Reproduction and Embrology (ESHRE) Preimplantation Genetic Diagnosis (PGD) consortium are pleased to offer a full EQA scheme for PGD for monogenic diseases. This is following on from the success of the previous two pilot EQAs.
The 2011-12 PGS EQA scheme will be offered for Fragile X syndrome. Registration for this scheme is now closed but if you would like further details on how to participate in future schemes then please contact the UK NEQAS for Molecular Genetics Scheme Organiser (
info@ukneqas-molgen.org.uk).
*Participation Fees for 2012*
There is an annual registration fee per laboratory (regardless of the number of schemes):
UK laboratories: £150
non-UK laboratories: £200
The annual registration fee will be waived if the laboratory is only participating in pilot EQAs.
The following participation fees apply (per disease EQA):
Full genotyping/interpretation schemes: £345
BRCA, CF, D/BMD, FAP, FRAX, HMSN&HNPP, HNPCC, HD, MCADD, MCC & sexing, mtDNA, PWS&AS and SMA.
Genotyping only schemes : £170
MSI (pilot) and BRCA2 gene screen
Interpretation only schemes: £170
DM, FH, LongQT, MAP, POLG, Rett and Pathogenicity of sequence variants (pilot)
CF molecular testing on blood spots: £800 (includes 4 distributions)
MCADD molecular testing on blood spots: £800 (includes 4 distributions)
MCADD extended mutation screening pilot scheme: To be confirmed
Molecular Rapid Aneuploidy scheme: £345
GIST EQA scheme: £200 (1 distribution)
KRAS EQA scheme: £600 (includes 3 distributions)
EGFR EQA scheme: £600 (includes 3 distributions)
BRAF pilot EQA scheme (genotyping only): £300 (includes 3 distributions)
The Molecular PGD 2011 EQA scheme is comprised of two stages. Stage 1 has a fee of £110 and Stage 2 has a fee of £225. Please note that as this is no longer a pilot EQA then the annual registration fee will apply.
*EQA Publications*
Deans ZC, Tull J, Beighton G, Abbs S, Robinson DO, Butler R. Molecular genetics external quality assessment pilot scheme for KRAS analysis in metastatic colorectal cancer. Genet Test Mol Biomarkers 2011 Aug 18 [E pub].
Ramsden SC, Deans Z, Robinson DO, Mountford R, Sistermans EA, Grody WW, McQuaid S, Patton SJ, Stenhouse SA. Monitoring the standards for molecular genetic testing in the United Kingdom, the Netherlands and Ireland . Genet Test. 2006 10(3):147-56.
Ramsden SC, Mann K, McConnell C, Hastings R. External quality assessment of rapid prenatal detection of numerical chromosomal aberrations using molecular genetic techniques: 3 years experience. Prenatal Diagn. 2007 Feb 8; [Epub].
*Participant Feedback*
The 2012 Annual Participants' Meeting for the molecular genetics schemes will be held on 2nd May 2012 during the Clinical Molecular Genetics Society Spring Conference in Birmingham.
The 2012 PGD EQA Participants' Meeting will be held on 30th June, 2012 at EHSRE, Istanbul.
If you would like further details of either of these meetings then please contact the Scheme Organiser (info@ukneqas-molgen.org.uk).
The 2011 Annual Participants' Meeting was held during the the Clinical Molecular Genetics Society Spring Conference 2011 in Durham.
The 2011 PGD EQA Participants' Meeting was held on Saturday 2nd July, 2011 at ESHRE, Stockholm.
Updated: 24/01/2012- Sandi Deans
Log: 07/10/2011 SD - 29/01/2011 SD - 15/11/2010 SD - 02/06/2010 SD - 17/02/2010 SD - 6/11/2009 SD - 19/02/2009 SD -18/06/2008 SD - 23/04/2008 SD -28/01/2008 SD -19/10/2007 SD -26/06/2007 SD -10/04/2007 SD - 22/02/2007 SD - 29/01/2007 SD - 15/08/2006 SD
*NEW - BRAF pilot 2012-13*
UK NEQAS for Molecular Genetics and UK NEQAS for Immunocytochemistry and In-Situ Hybridisation are delighted to offer a pilot EQA for molecular genetic analysis of BRAF in melanoma. This pilot EQA will be a goenytping only EQA therefore laboratories offering a BRAF molecular testing service in different tumour types can participate.
If you would like further information then please complete the survey at http://fs2.formsite.com/ukneqas/form33/index.html . This survey closes on Friday 10th February 2012.
The format of the 2012-13 BRAF pilot EQA will include three rounds of EQA. Each round will comprise of 3 tumour samples for testing. Participants will be given a choice of slide mounted paraffin embedded tumour tissue or rolled sections (or both). Laboratories will be assessed on genotyping accuracy.
Samples will be distributed as follows:
-
Round 1 - April 2012
-
Round 2 - September 2012
-
Round 3 - January 2013
Laboratories need only register for the first round of EQA in order to receive the three sample distributions.
If you require any further information then please contact the Scheme Organiser on info@ukneqas-molgen.org.uk.
