Wessex Regional Genetics Laboratory Summary of QA performance and turnaround times Salisbury District Hospital NHS Foundation Trust, Odstock Road, Salisbury, Wiltshire SP2 8BJ. Phone 01722 429080 www.wrgl.org.uk Year 2012 CPA # 1175 – Status Full - Next inspection due March 2016 For a complete list of our services please refer to our website at www.wrgl.org.uk Scope of the service The laboratory services include:Molecular Genetics Molecular Cytogenetics (FISH and Array CGH ) Prenatal cytogenetics of amniotic fluid and chorionic villus samples with full karyotyping, FISH (fluorescent In situ hybridisation) and rapid QF-PCR Cytogenetics of blood, solid tissues and oncological samples Cytogenetics Constitutional Period 1/10/2011 31/12/2011 Category National guidelines Reported in RGT % in RTG Amnio Karyotype Routine 14 177 170 96% Amnio QF-PCR Urgent 3 83 83 100% CVS Karyotype Routine 14 83 75 90% CVS QF-PCR Urgent 3 24 23 96% Blood Karyotype Routine 28 399 378 95% Blood Karyotype Urgent 7 63 63 100% Array CGHDiagnostic Routine 56 435 373 86% Priority National guidelines Reported in RGT % in RTG Urgent 3 12 12 100% Routine 21 111 111 100% Urgent 10 45 45 100% Routine 21 290 290 100% Acquired Period 1/10/2011 31/12/2011 FISH FISH Karyotypes & Molecular Karyotypes & Molecular Molecular genetics: The laboratory is working to standards laid down by the White Paper “Our inheritance, our future…”. As a result, the majority of prenatal/urgent cases are turned around in less than 3 working days, testing of family members for known mutations is done in less than 20 working days and testing for unknown mutations in 40 working days. The High Throughput Screening facility can also complete testing for unknown mutations in BRCA1 and BRCA2, Marfan syndrome genes, NF1 and PTEN within 40 working days. Testing for acquired mutations, KRAS and EGFR is carried out within 5 working days. We contribute to the UKNEQAS and EMQN schemes for external quality control. Dr Tony Herbert ---------------------------- Quality Manager date: -----------------------