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Thursday 26th March
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Could distal MSH2 upstream deletions cause HNPCC? - John Taylor
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Epidermal Growth Factor Receptor and K-Ras mutations in patients with Non Small Cell Lung Cancer - Hood Mugalassi
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Identification and RQ-PCR monitoring of CML patients with rare variant BCR-ABL transcripts - Christopher Bowles
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Fumarate Hydratase; one gene, two inheritance patterns and two or three diseases - Oliver Ridgeway
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Validation of BRCA2 mutation scanning using the Light-Scanner system for high resolution melt analysis - Lewis Darnell
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Development of a mutation screening service for ARPKD - Wendy Lewis
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Development of a molecular genetic diagnostic service for X-linked ichthyosis, with emphasis on carrier detection - Eleanor Reavey
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Development of a New Method to Prioritise Gene Analysis in Familial Hypertrophic Cardiomyopathy - Jayne Duncan
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Sequencing of the Hypertrophic Cardiomyopathy genes using an automated high throughput strategy - Aisha Ansari
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Development and validation of a diagnostic service for epimutations that cause Pseudohypoparathyroidism type 1b - Jennifer Greatwood
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Affymetrix Resequencing Arrays - Matthew Smith
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Early experiences in amplicon sequencing using the Roche GS-FLX massively parallel DNA sequencer and its application within a diagnostic laboratory - Louise Stanley
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An assessment of the clinical sensitivity of molecular genetic testing in Hypertrophic Cardiomyopathy (HCM) - Katie Thomson
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Mutation Screening in patient affected with autosomal dominant hypercholesterolemia – results from the Department of Health (DH) Pilot Project - Alison Taylor
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Suspected confined blood chimerism in monochorionic dizygotic (MCDZ) twins - David Gokhale
Friday 27th March
Trainee presentations - session 3
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Developing a diagnostic service for Stargardt disease – a feasibility study - Emily Packham
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Developing a molecular genetic diagnostic service for arrhythmogenic right ventricular dysplasia/cardiomyopathy - Silvia Borras
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Non-invasive diagnosis of fetal sex using free fetal DNA:our experiences so far - Rebecca Woodward
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A false negative result for Myotonic Dystrophy type 2 using quadruplet primed PCR - Nick Parkin
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Development of Methylation Specific High Resolution Melt analysis for detection of 11p15 methylation abnormalities and comparison to MS-MLPA - Catherine Willoughby
Haematological Malignancies
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The measurement of minimal residual disease for UKALL2003 - Jeremy Hancock
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Acute Promyelocytic Leukemia with t(15;17) (q22;q21) with inv16 (p13q22) secondary AML - Susanna Akiki
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Acquired isodisomy (uniparental disomy) of chromosome 21 in an acute myeloid leukaemia (AML) patient as an incidental finding during routine chimaerism analysis, and the introduction of a new RUNX1 screening service - Joanne Mason
Molecular Pathology
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Rapid KRAS mutation screening by pyrosequencing - Philip Chambers
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The Bristol Experience of Molecular Genetic Analysis of Gliomas (LOH and MGMT) for Optimisation of Treatment - Hilary Sawyer
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Detection of BRAF Mutations in Tumour and Serum of Patients with Advanced Melanoma - Ruth Board
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A survey of current pharmacogenetic testing in the UK and Ireland - Simon Ramsden
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