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Wednesday 2nd April
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Auditing of antenatal diagnosis - what is good practice? - Sarah Ball
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UK audit of biallelic abnormal PCR results in Chorionic Villus samples - Jonathan Waters
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QF-PCR stand alone prenatal diagnosis: the initial London experience - Caroline Ogilvie
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Development of a diagnostic test for mutations in NPM1 exon 12 in cytogenetically normal AML patients - Alison Skinner
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The introduction of ABL kinase domain mutation testing in CML patients showing resistance to Imatinib - Davina Clavering
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Duplication of the MECP2 gene region and severe mental retardation in males - Rachel Butler
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Transmitted imbalances without phenotypic effect: new examples detected with oligonucleotide array CGH - John Barber
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Discrepant cytogenetic, MLPA and array CGH results on a der(X)(pter>q27.2::p22.31>pter): the advantages of an integrated approach - Morag Collinson
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The development of SYBR green qPCR to confirm small SNP array aberrations - Carolyn Dunn
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EUROGENTEST: activities in quality management and accreditation of genetic testing services - Ros Hastings
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The ORPHANET database: a free online tool for Molecular Geneticists and Cytogeneticists - Emma Gillaspy
Thursday 3rd April
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High resolution mapping of the X chromosome pseudoautosomal region in two siblings with Hodgkin lymphoma and Leri-Weill Dyschondrosteosis - Kym Spencer
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Apparent homozygous deletion identified in Alstrom syndrome patient - Elizabeth Perrott
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GALT and PAH deletion analysis in Galactosaemia and PKU patients - Sarah Burton-Jones
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Developing a diagnostic service for Pulmonary Surfactant Metabolism Dysfunction types 1,2 and 3 -sequencing of SFTPB, SFTPC and ABCA3 - Caroline Archer
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Mutation scanning in Marfan syndrome employing high resolution MELT analysis - Kate Sergeant
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Development of a BRCA2 screening service - introduction of high resolution MELT analysis - Nick Camm
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Microsatellite instability in sporadic colorectal cancer: a retrospective study - Kimberley Slowther
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Loss of MLH1 expression due to promoter methylation in cases referred for HNPCC investigations - Lorraine Hawkes
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Implementation of a new diagnostic service for congenital adrenal hyperplasia - Charlene Crosby
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Evaluation of whole genome amplification from small cell numbers and the development of pre-implantation genetic haplotyping assays - Jenna McLuskey
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Investigating the use of Multiple Displacement Amplification (MDA) to amplify nanogram quantities of DNA to use for downstream mutation screening by sequencing and MLPA - Kirsty Manger
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A diagnostic testing service for Hypophosphatemic Rickets - Melissa Sloman
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Diagnostic testing for familial pancreatitis - Emma McCarthy
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A multicentre technology assessment of the Abbott Fragile X assay - Andrew Wallace
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Towards semi-automated analysis of unidirectional sequence data using Mutation Surveyor - Carolyn Tysoe
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Diagnostic analysis of Norwegian BRCA mutations using Sequenom MALDI-TOF mass spectrometer - Ann Curtis
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Introducing GLEAM: the Glasgow Linkage Exclusion Analysis Method - Su Stenhouse
Friday 4th April
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Cystic Fibrosis Newborn screening in the Bristol Genetics Laboratory: Development and one year's experience - Claire Faulkner
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Improving diagnosis of Beckwith-Wiedemann syndrome using methylation sensitive MLPA and pyrosequencing - Christopher Campbell
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Setting up a diagnostic service to investigate the production of type I collagen in patients with Osteogenesis Imperfecta - Kate Garrard
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Establishment of a mutation screening service for Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy - Tom Cullup
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A mutation screening service for Hypertrophic Cardiomyopathy - Shalaka Samant
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Development of a UK diagnostic service for Meckel-Gruber syndrome - Helen Lindsay
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Analysis of three genes from the RAS-MAPK signaling pathway that are causative of Noonan / Leopard syndromes - Sandra Ramos
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Novel splice site mutations as the cause of FAP-related cancer in two families - Kerry Sweet
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Diagnostic mitochondrial DNA analysis in body fluids other than blood - Sarah Ball
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Mitochondrial DNA maintenance disorders: POLG1, PEO1 and ANT1 analysis - Carl Fratter
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Implementation of the National CF Newborn screening programme: a review of the first year of testing nationwide - Ottie O'Brien
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