2008 EQA Schemes
UKNEQAS for Molecular Genetics will be offering 12 EQA schemes during 2008 as well as three new pilot schemes (see below for details): - Cystic fibrosis (CF)
- Duchenne & Becker musuclar dystrophies (D/BMD)
- Familial breast and ovarian cancer (BRCA)
- Fragile X syndrome (FRAX)
- Hereditary non-polyposis colon cancer (HNPCC)
- Huntington disease (HD)
- Medium chain acyl CoA dehydrogenase deficiency molecular scheme (MCADD)
- Mitochondrial diseases (mtDNA)
- Familial adenomatous polyposis (FAP)
- Prader-Willi syndrome and Angelman syndrome (PWS & AS)
- Cystic fibrosis testing on blood spots (CF blood spots) - Further details given below
- Molecular rapid aneuploidy scheme (MRA) - Further details given below
Registration is currently open. 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, D/BMD, FAP, FRAX, PWS & AS, HNPCC, HD, MCADD and mtDNA*
- Online scheme registration - CLOSED - contact Scheme Organiser if you wish to participate
- Sample distributions (disease dependent) - 23rd June, 2008 and 4th August, 2008
- Report submission deadline - 12th September, 2008
- Annual report published - 26th November, 2008
- Appeals period -26 November, 2008 to 7th January, 2009
- Final report published - 21st January, 2009
*GIST Molecular Testing Pilot EQA*
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. UKNEQAS for Molecular Genetics and the National Genetics Reference Laboratory (Manchester) are collaborating to offer you the opportunity to participate in a round of external quality assessment relevant to this laboratory procedure.
There will be no charge for participation in this pilot scheme.
Registration is open on the website until 25th July 2008.
For full details please contact either the UKNEQAS for Molecular Genetics Scheme Organiser (
info@ukneqas-molgen.org.uk) or Dr Simon Ramsden, NGRL Manchester (
simon.ramsden@cmmc.nhs.uk).
*Preimplantation Genetic Diagnosis Molecular Testing Pilot EQA*
UKNEQAS for Molecular Genetics and the European Society of Human Reproduction and Embrology (ESHRE) Preimplantation Genetic Diagnosis (PGD) consortium are offering a pilot EQA scheme for PGD for monogenic diseases. This is currently under development with the aim to provide DNA samples for a feasilblity study and single cells to reproduce a case study towards the end of 2008. Initially the pilot scheme will focus on cystic fibrosis and will then be developed to include autosomal dominant and X-linked disorders.
There will be no charge for participation in this pilot scheme.
Registration is open on the website until 31st July 2008.
For full details please contact the UKNEQAS for Molecular Genetics Scheme Organiser (
info@ukneqas-molgen.org.uk).
*Maternal Cell Contamination EQA Pilot Scheme (MCC)*
UK NEQAS for Molecular Genetics is pleased to offer a new pilot EQA scheme for 2008. The scheme is open to all laboratories providing MCC analysis on prenatal samples. The MCC will not be linked to a disease-specific prenatal diagnosis. Please see recently published draft Best Practice guidelines for MCC at http://cmgsweb.shared.hosting.zen.co.uk/BPGs/pdfs%20Dec%2007/MCC.pdf
This pilot scheme will be run at a reduced fee of £100 which will help to meet the cost of sample validation and distribution.
If you require any further details then please contact the Scheme Organiser (info@ukneqas-molgen.org.uk).
*Sample Swap EQA*
UKNEQAS for Molecular Genetics is providing genotyping only EQA schemes for rarer diseases during 2008. 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.
Registration is currently open. 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 - CLOSED - contact Scheme Organiser if you wish to participate Sample collection - June/July, 2008 Round 1 Sample distribution - late September, 2008 Round 2 Sample distribution - January, 2009
*Sample Swap EQA Round 1* - Achondroplasia
- CADASIL
- Connexin 26
- MEN1
*Sample Swap EQA Round 2* - Marfan syndrome
- MEN2A & 2B
- Rett syndrome
- Von Hippel Lindau syndrome
*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 European laboratories however, there is a limited number of places available for new participants so 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. The key dates are given below:
- Online scheme registration - CLOSED - contact Scheme Organiser if you wish to participate
- First sample distribution - 14th April, 2008
- Report submission deadline - 9th May, 2008
- Results published - 9th June, 2008
- Second sample distribution - 20th October, 2008
- Report submission deadline - 14th November, 2008
- Results published - 15th December, 2008
*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 - CLOSED
- Sample distribution - 2nd June, 2008
- Report submission deadline - 27th June, 2008
- Scores distributed - 1st September, 2008
- Appeals period – 1st September, 2008 to 19th September, 2008
- Final report published - 29th September, 2008
*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 , the and . 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].
*Participation Fees*
The fee for participation in each disease scheme will remain at £300 for 2008. The annual registration fee per laboratory will also remain at £100 per laboratory.
*Participant Feedback*
The 2008 Annual Participants' Meeting was held on Thursday 3rd April, 2008 at the Clinical Molecular Genetics Society Spring Conference 2008 in Liverpool. If you were unable to attend and wish feedback from this meeting then please contact the Scheme Organiser (info@ukneqas-molgen.org.uk).
Updated:18/06/2008- Sandi Deans
Log: 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
