2009 EQA Schemes
UKNEQAS for Molecular Genetics will be offering the following full interpretative EQA schemes during 2009: - Cystic fibrosis (CF)
- Familial breast and ovarian cancer (BRCA)
- Fragile X syndrome (FRAX)
- Friedreich Ataxia (FRDA)
- Hereditary Motor and Sensroy Neuropathy and Hereditary Neuropathy with Liability to Pressure Palsies (HMSN/HNPP)
- 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)
- Spinal muscular atrophy (SMA)
- Cystic fibrosis testing on blood spots (CF blood spots) - Further details given below
- Molecular rapid aneuploidy scheme (MRA) - Further details given below
If you have not previously participated in a UKNEQAS for Molecular Genetics EQA scheme then please contact the Scheme Organiser (info@ukneqas-molgen.org.uk) for further information.
*Scheme dates for BRCA, CF, DM, HMSN/HNPP, FRAX, SMA, FRDA, HD, MCADD, mtDNA amd MCC with sexing*
- Online scheme registration - 1st February, 2009 to 31st March, 2009
- Sample distributions (disease dependent) - 13th July, 2009 and 24th August, 2009
- Report submission deadline - 2nd October, 2009
- Annual report published - 9th December, 2009
- Appeals period -9th December, 2009 to 20th January, 2010
- Final report published - 3rd Febuary, 2010
*NEW FOR 2009 - BRCA1 full gene screen EQA*
To reflect the nature of the gene screening work performed by diagnostic laboratories, during 2009 we will be offering a BRCA1 full gene screening EQA scheme. This scheme will involve the testing of one sample which will be dispatched in the first sample distribution for the full interpretative EQA schemes to allow 12 weeks for testing (see above for dates). This is a genoytping only exercise and therefore full interpetative reports are not required.
*Sample Swap EQA 2009*
UKNEQAS for Molecular Genetics is providing genotyping only EQA schemes for rarer diseases. These schemes will involve sample collection from participating laboratories (1-3 DNA samples) which will be independently validated by UKNEQAS for Molecular Genetics prior to sample distribution.
If you have not previously participated in a UKNEQAS for Molecular Genetics EQA scheme then please contact the Scheme Organiser (info@ukneqas-molgen.org.uk) for further information.
- Online scheme registration - 1st February, 2009 to 31st March, 2009
- Sample collection (if required) - June/July, 2009
- Sample distribution - 28th September, 2009
*Sample Swap EQA Diseases for 2009* - Achondroplasia
- Familial Hypercholesterolaemia
- Multiple Endocrine Neoplasia type 2
- MUTYH-associated polyposis
- Rett syndrome
- Spinal Bulbular Muscular Atrophy
- Von Hippel-Lindau disease
*Cystic fibrosis testing on blood spots*
This scheme is run in collaboration with National Genetics Reference Laboratory (Manchester ). UKNEQAS for Molecular Genetics would like to thank the Reference Laboratory for all their help and support with this EQA scheme.
This scheme is open to all laboratories. Please contact the Scheme Organiser (info@ukneqas-molgen.org.uk) if you are a new participant and interested in registering for this scheme. There will be two sample distributions for this EQA scheme with five neonatal screening blood spots in each distribution. The key dates are given below:
- Online scheme registration - 1st February, 2009 to 31st March, 2009
- Round 1 sample distribution - 14th April, 2009
- Round 1 report submission deadline - 8th May, 2009
- Round 2 sample distribution - 19th October, 2009
- Round 2 report submission deadline - 13th November, 2009
*Molecular Rapid Aneuploidy Scheme*
This EQA scheme is being run in collaboration with UK NEQAS for Clinical Cytogenetics. This EQA scheme is open to all laboratories. 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 - 1st February, 2009 to 31st March, 2009
- Sample distribution - 7th September, 2009
- Report submission deadline - 2nd October, 2009
*GIST Molecular Testing Pilot EQA 2009*
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 the 2008 Pilot EQA scheme, UKNEQAS for Molecular Genetics and the National Genetics Reference Laboratory (Manchester) have collaborated to offer external quality assessment relevant to this laboratory procedure.
This EQA is now closed.
If you would like further information on future GIST EQAs please contact the UKNEQAS for Molecular Genetics Scheme Organiser (
info@ukneqas-molgen.org.uk) or Dr Simon Ramsden, NGRL Manchester (
simon.ramsden@cmft.nhs.uk).
*KRAS Molecular Testing Pilot EQA 2009*
UK NEQAS for Molecular Genetics is providing a new pilot EQA scheme for KRAS molecular testing in metastatic colorectal cancer during 2009. This EQA is now closed but if you are interested in participating in future schemes then please contact the Scheme Organiser (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 are offering a second pilot EQA scheme for PGD for monogenic diseases. This pilot scheme is open to all interested laboratories.
If you would like details on how to participate please contact the UKNEQAS for Molecular Genetics Scheme Organiser (
info@ukneqas-molgen.org.uk).
*Participation Fees for 2009*
The annual registration fee per laboratory is £105 per laboratory (regardless of the number of schemes).
The following schemes have a participation fee of £315 (per disease):
CF, BRCA, FRAX, FRDA, HMSN/HNPP, HD, MCADD, mtDNA, DM, SMA, CF testing on blood spots and Molecular Rapid Aneuploidy.
The Sample Swap genotyping only schemes and the BRCA1 full gene screen EQA have a participation fee of £105 per EQA.
The maternal cell contamination and sexing EQA is now a full EQA scheme and has a participation fee of £200.
The GIST Pilot EQA scheme has no participation fees.
There is a £50 participation fee for the KRAS Pilot EQA scheme.
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. Full details can be obtained from the Scheme Organiser (info@ukneqas-molgen.org.uk).
*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 2009 Annual Participants' Meeting was held on Friday 27th March, 2009 at the Clinical Molecular Genetics Society Spring Conference 2009 in Exeter.
The 2010 Annual Participants' Meeting is schedules to be held during the Clinical Molecular Genetics Society Spring Meeting 2010. Please ensure your laboratory is represented at this meeting.
Updated:06/11/2009- Sandi Deans
Log: 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
