1. Combined screening - Newcastle experience Jerry Evans, Cytogenetics Laboratory Newcastle Upon Tyne
2. Mosaicism in prenatal diagnosis Rolf-Dieter Wegner, Center for Prenatal Diagnosis Kudamm 199, Berlin
3. Investigation into foetal ovarian mosaicism Charlotte Morris (Trainee Presentation), Cytogenetics Laboratory, Newcastle upon Tyne
4. Array CGH - should it replace karyotyping for fetal anomolies? Steve Robson Professor of Fetal Medicine, Newcastle Hospitals NHS Foundation Trust
5. Implementation of Preimplantation Genetic Screening using 24sure™ Aram Buchanan Merseyside and Cheshire Regional Genetics Service, Liverpool
6. Prenatal diagnosis of an apparently balanced 7;13 translocation derived from a maternal complex rearrangement involving chromosomes 7, 11and 13. Melody Tabiner, Oxford Medical Genetics Laboratories(Prize Winner - Best non-trainee presentation)
7. Adventures, Bananas, Cytogenetics, Diversity and Evolution. Pat Heslop-Harrison, Molecular Cytogenetics Research Group, University of Leicester
8. ACC AGM - Chair's Report, Professional Standards, MLC, Technologist's Report, Treasurers Report
9. Review of ten years of cytogenetic analysis of IUFD products, towards a molecular approach. A.M.F. van der Kevie-Kersemaekers, Deparment of Clinical Genetics, Academic Medial Center, Amsterdam
10. Managing pregnancy losses: Arrays replacing karyotypes. Baljinder Kaur Matharu (Trainee Presentation), Medical Genetics Laboratories, Cambridge
11. Evaluation of custom 8x15k array CGH combined with QF-PCR for cytogenetic investigations of solid tissue laboratory referrals. Shuwen Huang National Genetics Reference Laboratory, Wessex
12. An Investigation in to a New Protocol for the Processing of Solid Tissue Samples Resulting From Pregnancy Loss. Kelly Cameron (Trainee Presentaion), Merseyside and Cheshire Cytogenetics Laboratory, Liverpool
13. ACC UKNEQAS participants meeting
Ros Hastings Claudia Haferlach, Munich Leukaemia Laboratory15. Three cases of childhood acute lymphoblastic leukaemia (ALL) with intrachromosomal amplification of chromosome 21 (iAMP21) and apparent precursor Robertsonian translocation: der(15;21)(q10;q10)Claire Schwab Leukaemia Research Cytogenetics Group, Newcastle University
16. The evolution of cryptic additional clonal cytogenetic abnormalities during TKI treatment of CML Philippa C. May Leukaemia Cytogenetics Unit, Hammersmith Hospital, London
17. Implementation of 1p/19q diagnostic service
Mala M Vast (Trainee Presentation), SW Thames Regional Genetic Laboratories18. Molecular pathology - a strategy for diagnosing bone and soft tissue tumours.
Adrienne Flanagan Histopathology, University College Hospital19. Validation of an array CGH based approach for the genetic analysis of neuroblastoma
. Rebecca Watts (Trainee Presentation), West Midlands Regional Genetics Laboratories, Birmingham Dariusz Ladon, Cytogenetics, Haematological Medicine, King's College Hospital, London21. Use of oligonucleotide DSP30 and IL2 as a B cell mitogens in low grade LPDs
Chris Lowe, Cytogenetics Laboratory Newcastle Upon Tyne22. An Essential Guide to Bioinformatics Tools for Cytogeneticists. The NGRL Team, National Genetics Reference Laboratory, Manchester
23. High resolution microarray analysis in an orofacial clefting cohort allows for identification of causative copy number imbalances and novel candidate genes
. Fiona S Togneri, West Midlands Regional Genetics Laboratory, Birmingham24. Oligonucleotide array-CGH analysis of fetuses with congenital abnormalities.
Sarah Taylor (Trainee Presentation), Cytogenetics Laboratory, Newcastle upon Tyne25. Array CGH study in a cohort of paediatric patients with hyperinsulineamia.
Tanja Fiegel (Trainee Presentation), NE Thames Regional Genetics Laboratory27. Oligo Array CGH in Newcastle: One Year On
Simon A. Zwolinski, Department of Cytogenetics, Newcastle upon Tyne28. The application of next-generation sequencing for the diagnosis of copy number changes.
Antigoni Tzika (Trainee Presentation), Leeds Cytogenetics Unit29. Analysis of copy number change using quantitative real-time PCR.
Evangelia Karampetsou (Trainee Presentation), NE Thames Regional Genetics Service Laboratories (Prize Winner - Best Trainee Presentation)30. Evaluation of Fibre FISH as a method for verifying small tandem duplications detected by aCGH
Ronnie Wright (Trainee Presentation), Genetic Medicine, St Mary's Hospital, Manchester31. The use of paralogous sequences for the improved diagnosis of X chromosome imbalance by QF-PCR. Kathy Mann, Cytogenetics Laboratory, GSTS
32. Detection of copy number imbalances in children with learning disability:Where are we now? Una Maye Cytogenetics Laboratory, Liverpool
33. International Standards for Cytogenomic Arrays (ISCA) consortium array platform. John Crolla, National Genetics Reference Laboratory, Wessex
34. Non-invasive prenatal diagnosis of Down Syndrome. Philippos Patsalis, Cyprus Institute of Neurology and Genetics
35. Trainee feedback - STP Jessica Gabriel and PTP Gillian Morris
36. MSC training delivery in Birmingham Jennie Bell, West Midlands Regional Genetics Laboratories
37. An Essential Guide to Bioinformatics Tools for Molecular Geneticists. The NGRL Team, National Genetics Reference Laboratory, Manchester
38. Using population variation and novel pathogenicity scores to support diagnostic interpretation of variants of unknown clinical significance. Matt Hurles, Wellcome Trust Sanger Institute, Cambridge
39. Genes, pathways and omes in the diagnostic world. Graham Taylor
, Leeds Institute of Molecular Medicine David Baty and Angela Douglas41. Multiplex ligation-dependent probe amplification (MLPA) in the diagnosis of 1p/19q deletions in oligodendroglial tumours Mariana Grobler (Trainee presentation), SW Thames Molecular Genetics Laboratory
42. Next Generation Sequencing for BRCA1 mutations. Natalie Chandler (Trainee presentation), East Midlands Regional Genetics Service, Nottingham
43. Dosage analysis of the MTC8 gene in the X-linked Allan-Herndon Dudley syndrome. Isabelle Delon (Trainee presentation), East Anglian Medical Genetics Service, Cambridge
44. A targeted capture approach to next generation sequencing. Christopher Watson (Trainee presentation), Yorkshire Regional DNA Laboratory, Leeds
45. The use of hybrid mini-gene assays in a diagnostic setting to assess unclassified variants for splicing defects. Nicola Ibberson (Trainee presentation), East Anglian Medical Genetics Service, Cambridge
46.Treatment prospects for muscular dystrophy - the early trials. Kate Bushby Institute of Human Genetics, Newcastle upon Tyne
47. CMGS AGM David Baty
48. Development of molecular testing strategies for common point mutations and gene rearrangements in sporadic thyroid cancers Steven Hardy (Trainee presentation), Northern Genetics Service, Newcastle upon Tyne
49. RNA splice analysis of BRCA gene variants
Sophie Marks (Trainee presentation), Wessex Regional Genetics Laboratory50.
Development of a diagnostic service for Limb Girdle Muscular Dystrophy 2I in Scotland Saeeda Bhatti (Trainee presentation), West of Scotland Regional Molecular Genetics Services51. Implementation of a Molecular Genetic Diagnostic Test for Niemann-Pick Type C. Johanna Hunt (Trainee presentation), West Midlands Regional Genetics Laboratory
52. Beating Colon Cancer John Burn, Institute of Human Genetics, Newcastle upon Tyne
53. Optimisation of Parameters for the Assessment of Unclassified Disease Gene Sequence Variants Jennifer Warrender, Newcastle University
54. From blood sample to clinical report using a laboratory information management system (LIMS) with barcode checks and automatic data upload to minimise errors and improve efficiency. Sian Ellard, Exeter Molecular Genetics
55. Overview and evaluation of the Diagnostic Mutation Database. Michael Cornell, National Genetics Reference Laboratory, Manchester
56. Visualization of the Effect of Unclassified Variant Sequences on Exonic ESE/ ESS Content. Sushma Grellscheid
, Institute of Human Genetics, Newcastle upon Tyne57. Development of a service for hypertrophic cardiomyopathy using nextgeneration sequencing – translation into a diagnostic laboratory Sarah Reid and Jessica Woodley, Oxford Molecular Genetics Laboratory
58. Next Generation Sequence Data Analysis in Molecular Diagnostics. Jonathan Coxhead NewGene Limited
59. Development and implementation of diagnostic services using next generation sequencing. Helen Lindsay, Yorkshire Regional Molecular Genetics Laboratory
60. UK Clinical Molecular Genetics Society: Proof of principle for diagnostic application of next generation sequencing. Chris Mattocks, National Genetics Reference Laboratory, Wessex
61. Development and implementation of a clinical next generation sequencing service for patients with X-linked learning disability. Howard Martin, Regional Molecular Genetics Laboratory, Cambridge
62. Preventing Transmission of Mitochondrial disease. Doug Turnbull, Mitochondrial Research Group, Newcastle University
63. UK NEQAS Participants meetings Sandi Deans
64. False positive MLPA deletion cases resulting from variable quality DNA
Helen Stuart, All Wales Molecular Genetics Laboratory Rebecca Whittington, Bristol Genetics Laboratory66. Inherited Peripheral Neuropathies: testing of more genes provides answers and triggers new questions. Thalia Antoniadi, Bristol Genetics Laboratory
67. Comparing the sensitivity of methods routinely used for the detection of acquired EGFR mutations – a CMGS Scientific Sub-Committee study. Martina Owens, Molecular Genetics, Exeter
68. A Diagnostic Service for Primary Congenital Glaucoma (PCG) Suzanne Drury, NE Thames Regional Genetics Service Laboratories
69. Rapid introduction of a diagnostic service for Brown-Vialetto-Van Laere syndrome (BVVLS) and extension of the clinical phenotype. Wendy Roworth, GSTS Pathology
70. Molecular Pre-implantation Genetic Diagnosis in Scotland: The first year. Jenna McLuskey, South East Scotland Genetic Services, Edinburgh
71. Maternally-inherited mitochondrial DNA disease in consanguineous families. Charlotte Alston
, Mitochondrial Research Group and NCG Mitochondrial Laboratory, Newcastle upon Tyne