*2010 EQA Schemes*
UK NEQAS for Molecular Genetics will be offering the following full interpretative disease EQA schemes during 2010:
- Cystic fibrosis (CF)
- Duchenne and Becker muscular dystrophies (D/BMD)
- Familial breast and ovarian cancer (BRCA)
- Fragile X syndrome (FRAX)
- Hereditary non-polyposis colon cancer (HNPCC)
- Huntington disease (HD)
- Maternal cell contamination with sexing (MCC & sexing) - This is now a full EQA
- Medium chain acyl CoA dehydrogenase deficiency molecular scheme (MCADD)
- Mitochondrial diseases (mtDNA)
- Myotonic dystrophy type 1 (DM)
- Prader Willi syndrome and Angelman syndrome (PWS/AS)
- Molecular rapid aneuploidy scheme (MRA) - Further details given below
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. Registration ahs now closed for these 2010 EQAs. If you are interested in participating in furture schemes then please contact the Scheme Organiser.
During 2010, we aim to improve the turnaround time for publishing the final individual laboratory scores and the final scheme report. Therefore the appeals process will take place during November and early December, with the final report being published before the end of 2010.
*Scheme dates for full interpretation EQAs*
- Online scheme registration - open until 31st March, 2010
- Sample distributions (disease dependent) - 21st June, 2010 and 2nd August, 2010
- Report submission deadline - 10th September, 2010
- Annual report published - 12th November, 2010
- Appeals period - 12th November, 2010 to 10th December, 2010
- Final scores and final report published - 22nd December, 2010
*Genotyping only EQAs 2010*
There will be three genotyping only EQAs offered during 2010:
- Dentatorubral-pallidoluysian atrophy (DRPLA) genotyping only EQA - Three DNA samples will be distributed on 21st June, 2010 (along with the first sample distribution for the full interpretative schemes). This will allow 12 weeks for testing (see above for dates). Participants are required to test the samples in their routine manner and report the genotyping results. Full interpretative reports are not required.
- Following on from the success of the 2009 BRCA1 full gene screening pilot EQA, we are providing a BRCA2 full gene screening pilot EQA this year. 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).
- A Microsatellite instability testing pilot EQA is new for 2010. 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).
*Interpretation only EQAs 2010*
UK NEQAS for Molecular Genetics is offering interpretation only EQAs during 2010. 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 2010: - Connexin 26 (Cx 26)
- MUTYH-associated polyposis (MAP)
- Rett syndrome (Rett syn)
- Spinal muscular atrophy (SMA)
- Von Hippel-Lindau syndrome (VHL)
*Scheme dates for web-based interpretation EQAs*
- Online scheme registration - open until 31st March, 2010
- Cases distributed -2nd August, 2010
- Report submission deadline - 10th September, 2010
- Annual report published - 12th November, 2010
- Appeals period - 12th November, 2010 to 10th December, 2010
- Final scores and final report published - 22nd December, 2010
*Molecular testing on blood spots*
UK NEQAS for Molecular Genectis has updated the molecular testing on blood spots EQA schemes and is pleased to offer new scheme formats for 2010.
*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*
We are pleased to offer this new EQA scheme during 2010. We would like to thank the Birmingham Children's Hospital for all their help in setting up this EQA scheme.
This scheme will follow 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 also aim to provide a pilot scheme for MCADD extended mutation screening. The format of this EQA is under development. If your laboratory is interested in participating in this scheme then please contact the Scheme Organiser.
*Molecular Rapid Aneuploidy Scheme*
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.
This EQA scheme is being run 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, 2010
- Sample distribution - 6th September, 2010
- Report submission deadline - 1st October, 2010
*GIST Pilot EQA 2010*
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 and the National Genetics Reference Laboratory (Manchester) continues to offer external quality assessment relevant to this laboratory procedure during 2010.
Participants are required to test tumour samples for changes in the
KIT and
PDGFRA genes and report their 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 2010*
UK NEQAS for Molecular Genetics run a successful pilot scheme for KRAS molecular analysis in metastatic colorectal cancer during 2009. Following on from this success we are pleased to offer a second year of the KRAS pilot scheme in collaboration with UK NEQAS for Immunocytochemistry.
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 pilot scheme.
Registration for this pilot EQA is now closed but if your laboratory is interested in participating in this scheme then please contact the Scheme Organiser on info@ukneqas-molgen.org.uk.
*EGFR Pilot EQA 2010*
UK NEQAS for Molecular Genetics is delighted to provide a pilot EQA for EGFR analysis in non-small cell lung cancer in collaboration with UK NEQAS for Immunocytochemistry. Samples will be distributed during September 2010 and both genotyping and interpretation of the results will be assessed.
Registration for this pilot EQA is now closed but if your laboratory is interested in participating in future schemes then please contact the Scheme Organiser on info@ukneqas-molgen.org.uk.
*Preimplantation Genetic Diagnosis Molecular Testing Pilot EQA*
UK NEQAS for Molecular Genetics and the European Society of Human Reproduction and Embrology (ESHRE) Preimplantation Genetic Diagnosis (PGD) consortium have provided a second pilot EQA scheme for PGD for monogenic diseases.
The 2010 scheme has now closed but if you would like 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 2010*
There is an annual registration fee per laboratory (regardless of the number of schemes):
UK laboratories: £150
non-UK laboratories: £200
The following participation fees apply (per disease EQA):
Full genotyping/interpretation schemes: £325
B/DMD, BRCA, CF, FRAX, HNPCC,
HD, MCADD, MCC & sexing, DM,
mtDNA, PWS/AS and MRA
Genotyping only schemes : £160
DRPLA, MSI (pilot),
BRCA2 gene screen (pilot)
Interpretation only schemes: £160
Cx26, MAP, Rett syn, SMA, VHL
CF molecular testing on blood spots: £800
MCADD molecular testing on blood spots: £800
MCADD extended mutation screening pilot scheme: To be confirmed
GIST pilot EQA scheme: £50
KRAS pilot EQA scheme: £50
EGFR pilot EQA scheme: £50
The Molecular PGD Pilot EQA scheme is comprised of two stages. Stage 1 has a fee of £100 and Stage 2 has a fee of £215.
*EQA Publications*
Two papers have recently been published detailing the EQA work carried out over the past few years. They are well worth a read! UKNEQAS for Molecular Genetics would like to thank NGRL ( Manchester ) for all the help and support with this work.
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 ahead of print].
*Participant Feedback*
The 2010 Annual Participants' Meeting was held on Tuesday 13th April, 2010 at the Clinical Molecular Genetics Society Spring Conference 2010 in Oxford.
There will be a PGD pilot EQA participants' meeting on Saturday 26th June 2010 at ESHRE, Rome. If you would like further details contact the Scheme Organiser (info@ukneqas-molgen.org.uk).
The 2009 Annual Participants' Meeting was held on Friday 27th March, 2009 at the Clinical Molecular Genetics Society Spring Conference 2009 in Exeter.
Updated:02/06/2010- Sandi Deans
Log: 017/02/2010 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
