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Wednesday Spoken Presentations

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9.1 Development of a single comprehensive gene screening test for Familial Hypercholesterolaemia using Next Generation Sequencing.
Philip Dean
9.3 Next generation sequencing of 105 genes associated with Retinitis Pigmentosa: Design, validation and implementation in a diagnostic setting. .
Brendan Mullaney
9.4 Next generation sequencing application for a heterogenous disorder: a pilot study on inherited peripheral neuropathies.
Chris Buxton
9.5 Investigating the genetic and molecular basis of the DNA repair and transcription disorders presenting in childhood.
Jessica Gabriel
9.6 The development of a NGS screen for the investigation of neonatal cholestasis using GS Junior and 48.48 Access Arrays with a two-step PCR strategy.
Kirsten McKay
GS Genetics: a changing landscape.
Prof Sir John Burn
10.2 NGRL: what does it stand for?
Andrew Devereau
11.1 Application of minigene splicing assays to elucidate the role of novel variants in Charcot-Marie-Tooth disease.
Kirsty Hambridge
11.5 The challenges of molecular genetic testing in Arrhythmogenic Right Ventricular Cardiomyopathy.
John Taylor
12.1 How do I know my test is working properly.
David Barton
12.2 Has EQA resulted in improved reporting.
Simon Patten
12.3 A clinicians view of genetics reports.
Helen Cox
12.4 External Quality Assessment scheme for constitutional microarray: lessons from two different EQA schemes.
Ros Hastings
12.5 Workload Units.
Sue Stenhouse & Katie Waters