Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

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1 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK University Hospitals NHS Foundation Trust, Level 1, The Women s Centre John Radcliffe Hospital University Hospitals NHS Foundation Trust OX3 9DU Contact: Dr Ros J Hastings Tel: +44 (0) ros.hastings@ouh.nhs.uk Website: Proficiency Testing provided from the locations specified below s covered by the organisation and their relevant activities details Activity code GenQA Level1, The Women s Centre John Radcliffe Hospital University Hospitals NHS Trust OX3 9DU Dr Ros J Hastings Contact details above Scheme operations Cytogenomics GenQA Room 39 G 03 Nuffield Orthopaedic Centre Windmill Road OX3 7LD Mrs Bettina Quellhorst-Pawley bettina.qp@ouh.nhs.uk QMS operations NOC Genetics Laboratories Churchill Hospital Old Road Headington OX3 7HE Dr Ros J Hastings Contact details above Aliquotting of EQA samples only CH Department of Laboratory Medicine Royal Infirmary of Edinburgh 51 Little France Crescent Edinburgh Midlothian EH16 4SA Dr Sandi Deans Tel: Sandi.Deans@ed.ac.uk Scheme operations - Molecular Laboratory services Assessment Manager: EWS Page 1 of 7

2 DETAIL OF ACCREDITATION Cytogenomics EQA Schemes For all online EQA schemes: GenQA Online Analysis EQA User Guide Constitutional EQAs: Amniotic fluid Amniotic fluid Online Images Blood (postnatal) Blood Online Images CVS Chorionic villus samples Products of conception (G-banded) Products of conception & pregnancy loss (G-banded) PGD Blastomere FISH Analysis of FISH images and interpretation of Part 1: Pre-implantation genetic blastomere FISH case scenarios Part 2: Pre-implantation genetic blastomere online analysis Haemato-Oncology EQAs: Acute Lymphoblastic Leukaemia ALL Assessment Manager: EWS Page 2 of 7

3 Cytogenomics EQA Schemes Mature B&T cell Neoplasms (G-banded) Mature B&T cell Neoplasms (Gbanded) Myeloid Myeloid Tumour Tumour DNA Postnatal Constitutional CNV detection Postnatal Constitutional CNV detection Fixed cell suspensions FISH Rapid Aneuploidy (prenatal) and interpretation of Prenatal FISH RA, CH Fixed cell suspensions Mature B&T cell Neoplasms (FISH only for CLL and lymphoma) and interpretation of Mature B&T cell Neoplasms (FISH) and laboratories for fixed sample preparation, CH Assessment Manager: EWS Page 3 of 7

4 Cytogenomics EQA Schemes FFPE slides CNS Tumours (formerly AMN) and interpretation of CNS Tumours (formerly AMN) FFPE DNA Acquired Microarray Acquired microarray DNA Prenatal Microarray Prenatal Microarray DNA Products of conception (Array/MLPA/PCR/NGS) Products of conception Fixed Cell Suspensions / online images Myeloma and interpretation of Myeloma, CH Assessment Manager: EWS Page 4 of 7

5 Molecular Genetics EQA Schemes: DNA Core molecular diseases Achondroplasia BRCA1 and BRCA2 gene screen C9orf72 related Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis CADASIL Connexin 26 Cystic fibrosis Duchenne and Becker muscular dystrophies Fabrys disease Familial adenomatous polyposis Familial breast and ovarian cancer Familial hypercholeresterolaemia Fragile X syndrome Friedreich ataxia Hereditary and motor sensory neuropathy and hereditary neuropathy with liability to pressure palsies Huntington disease Hypertrophic Cardiomyopathy Long QT syndrome Lynch syndrome / Hereditary non-polyposis colon cancer Marfan syndrome Maternal cell contamination and sexing MUYTH-associated polyposis Medium chain acyl CoA dehydrogenase deficiency Microsatellite instability testing [see also Molecular Pathology] Assessment Manager: EWS Page 5 of 7

6 Molecular Genetics Schemes DNA Core molecular diseases Mitochondrial diseases Molecular aneuploidy testing Multiple endocrine neoplasia types 2A & 2B Myotonic dystrophy Pathogenicity of sequence variants POLG mutation testing Prader-Willi and Angelman syndrome Rett syndrome Spinal bulbar muscular atrophy Spinal muscular atrophy Spinocerebellar ataxias Von Hippel-Lindau syndrome Dried blood spots Dried blood spot testing Cystic fibrosis (genotyping only) Medium chain acyl Co-A dehydrogenase deficiency (genotyping only) DNA and lymphocytes Pre-implantation genetic testing Monogenic disorders Formalin fixed paraffin Molecular pathology embedded (FFPE) tumour Microsatellite instability testing section or DNA Molecular analysis in colorectal cancer Molecular analysis in gastrointestinal stromal tumours Molecular analysis in lung cancer Molecular analysis in melanoma Assessment Manager: EWS Page 6 of 7

7 Molecular Genetics Schemes DNA Molecular Rapid Aneuploidy (prenatal) molecular result for rapid detection of aneuploidies of chromosomes 13, 18, 21, X and Y, analysis and interpretation of Molecular Rapid Aneuploidy distribution letter Blood DNA extraction schemes DNA extraction from blood samples FFPE tissue DNA extraction from tissue samples END Assessment Manager: EWS Page 7 of 7

Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK

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