8694 Medical Single 006
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Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Oxford University Hospitals NHS Foundation Trust Issue No: 006 Issue date: 13 August 2020 Oxford Medical Genetics Contact: Carolyn Campbell Laboratories Tel: +44 (0) 1865-226001 Churchill Hospital E-Mail: [email protected] 8694 Old Road Website: www.ouh.nhs.uk/geneticslab Headington Accredited to Oxford ISO 15189:2012 OX3 7LE Testing performed at the above address only DETAIL OF ACCREDITATION Materials/Products tested Type of test/Properties Standard specifications/ measured/Range of measurement Equipment/Techniques used HUMAN TISSUES AND FLUIDS Molecular Genetics Documented in-house methods incorporating manufacturer’s Detection of genetic mutations and instructions (where relevant) sequence variants for the purpose of clinical diagnosis Fresh, frozen or fixed human tissue Manual and automated DNA or cells extraction and quantification using: DNA SOP 2005-0159, 2006-0083, 2011 38, 2011 40, 2011 62, 2015 330, 2017 440 CYTO SOP 376, 460, 456 And Tecan Evo-HSM Robot, Promega Maxwell RSC, Grade 2 extraction cabinet, Nanodrop, Glomax Multi+ Fluorometer Genomic DNA extracted in-house Detection of specific mutations for: Non-fluorescent PCR amplification from the sample types listed above • Rare confirmation / followed by Restriction enzyme or received as primary sample type investigation of specific digest and electrophoresis from external source mutations using: • Mitochondrial DNA DNA SOP 2011 49, 2006-0107, analysis, e.g. m.8993T>C/G 2005-0064, 2005-0090, 2006-0002, And Biomek NX-S8 G-Storm and Dyad PCR Machines Genomic DNA extracted in-house Detection of large-scale deletions Non-fluorescent PCR amplification from the sample types listed above (mitochondrial DNA) followed by agarose gel or received as primary sample type electrophoresis from external source Rare confirmation / investigation of using: specific mutations DNA SOP 2011 49, 2005-0062, 2005-0090, 2006-0002, 2005-0184, Sex determination 2005-0154 and G-Storm and Dyad PCR Machines Gel tanks and power packs Assessment Manager: HL Page 1 of 11 Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Oxford University Hospitals NHS Foundation Trust 8694 Accredited to Issue No: 006 Issue date: 13 August 2020 ISO 15189:2012 Testing performed at main address only Materials/Products tested Type of test/Properties Standard specifications/ measured/Range of measurement Equipment/Techniques used HUMAN TISSUES AND FLUIDS Molecular Genetics (cont’d) Documented in-house methods (cont’d) incorporating manufacturer’s Detection of genetic mutations and instructions (where relevant) sequence variants for the purpose of clinical diagnosis (cont’d) Genomic DNA extracted in-house Detection of expansions including Fluorescent PCR amplification from the sample types listed above triplet repeats or microsatellite (including real-time PCR, Triplet or received as primary sample type marker analysis primed PCR, Devyser and ARMS) from external source using fluorescently tagged primers Fragment size analysis in the prior to detection and/or sizing of investigation of the PCR product using • HD commercially available kits or in- • ALS house designed assays using: • FMR1 DNA SOP 2008 4, 2008 14 • SBMA 2006-0051, 2005-0079, 2005-0081, • DM 2005-0082, 2005-0121, 2005-0129, • GREM1 2005-0184, 2006-0013, 2006-0014, • CFTR gene 2006-0027, 2006-0043, 2010 34, 2012 126, 2005-0090, 2006-0002, Microsatellite marker analysis for: 2005-0154, 2010 34, 2014 225 CYTO SOP 376, and • sex determination G-storm and Dyad PCR machines • zygosity ABI 3730 & ABI 7500 • linked markers with analysis using Gene Mapper • Ascertainment of Uni-parental Disomy (UPD) • Microsatellite Instability (MSI) • RAPID prenatal aneuploidy test • Quantitation of mitochondrial DNA copy number Genomic DNA extracted in-house Mitochondrial DNA analysis, e.g. Fluorescent PCR amplification from the sample types listed above m.3243A>G followed by Restriction enzyme or received as primary sample type digest from external source using fluorescently tagged primers prior to detection and/or sizing of the PCR product. DNA SOP 2011 49, 2006-0002, G-storm and Dyad PCR machines ABI 3730 with analysis using Gene Mapper Assessment Manager: HL Page 2 of 11 Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Oxford University Hospitals NHS Foundation Trust 8694 Accredited to Issue No: 006 Issue date: 13 August 2020 ISO 15189:2012 Testing performed at main address only Materials/Products tested Type of test/Properties Standard specifications/ measured/Range of measurement Equipment/Techniques used HUMAN TISSUES AND FLUIDS Molecular Genetics (cont’d) Documented in-house methods (cont’d) incorporating manufacturer’s Detection of genetic mutations and instructions (where relevant) sequence variants for the purpose of clinical diagnosis (cont’d) Genomic DNA extracted in-house Detection of large gene re- Southern blot from the sample types listed above arrangements and large triplet using: or received as primary sample type repeat expansions: DNA SOP 2005-0121, 2005-0079 from external source 2006-0002, 2014 225 (ALS/FTD) • FMR1 and • Mitochondrial DNA re- G-Storm and Dyad PCR machines arrangements Gel tanks, Hybridisation ovens • ALS/FTD Shakers • DM Gel Doc Developer Genomic DNA extracted in-house Detection and quantification of Pyrosequencing from the sample types listed above specific variants using: or received as primary sample type • Mitochondrial disorders (POLG, DNA SOP 2009 26, 2006-0002, from external source LHON) 2005-0101, 2010 34 • other specific mitochondrial and mutations Qiagen PyroMark ID System • BRAF analysis • HCM –associated mito variant, m.4300 Genomic DNA extracted in-house Whole gene screen analysis for Sanger sequencing from the sample types listed above genetic variants causing diseases using: or received as primary sample type and disorders, family testing DNA SOP 2009 23, 2005-0156, from external source (including prenatal and predictive 2012 140 testing), and confirmation of and variants detected by alternative Robots: Biomek NX-S8 and Biomek methods: NX-MC(96) ABI 3730 Analysis of: with analysis using Mutation surveyor software • Familial cardiomyopathy • Lynch syndrome • BRCA1 / BRCA2 • Familial Arrhythmias Assessment Manager: HL Page 3 of 11 Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Oxford University Hospitals NHS Foundation Trust 8694 Accredited to Issue No: 006 Issue date: 13 August 2020 ISO 15189:2012 Testing performed at main address only Materials/Products tested Type of test/Properties Standard specifications/ measured/Range of measurement Equipment/Techniques used HUMAN TISSUES AND FLUIDS Molecular Genetics (cont’d) Documented in-house methods (cont’d) incorporating manufacturer’s Detection of genetic mutations and instructions (where relevant) sequence variants for the purpose of clinical diagnosis (cont’d) Genomic DNA extracted in-house Endocrine disorders, including Sanger sequencing (cont’d) from the sample types listed above endocrine tumour predisposition or received as primary sample type Hyperparathyroidism from external source Hypoparathroidism Disorders of calcium metabolism • Familial Cancers • Craniosynostosis • Pheochromocytoma/paragangli oma • Skeletal dysplasia • Congenital Myasthenic syndrome • Disorders of the retina • Inherited Ataxias • Mitochondrial disorders • Disorders of mitochondrial maintenance and repair Assessment Manager: HL Page 4 of 11 Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Oxford University Hospitals NHS Foundation Trust 8694 Accredited to Issue No: 006 Issue date: 13 August 2020 ISO 15189:2012 Testing performed at main address only Materials/Products tested Type of test/Properties Standard specifications/ measured/Range of measurement Equipment/Techniques used HUMAN TISSUES AND FLUIDS Molecular Genetics (cont’d) Documented in-house methods (cont’d) incorporating manufacturer’s Detection of genetic mutations and instructions (where relevant) sequence variants for the purpose of clinical diagnosis (cont’d) Genomic DNA extracted in-house Gene screening of gene panels for from the sample types listed above genetic variants causing diseases Next generation sequencing with or received as primary sample type and disorders including: target enrichment using TWIST from external source Biosciences generated probes. • Familial Cardiomyopathy DNA SOP 2014-227, 2019-603. Veriti PCR Machines, • Inherited eye conditions GloMax®-Multi+’ Fluorometer, Agilent 2200 Tape Station • Ataxia Illumina NGS Platforms (either in house or located within the • Joubert & Ciliopathies Wellcome Trust Centre for Human Genetics. • Familial arrhythmia Analysis Analysis of DNA sequence data • Familial cancers generated either internally or externally using in-house validated • Mitochondrial bioinformatics pipeline DNA SOP 2016-402, 2019-602, • Painful channelopathies 2019-604, 2019-605, 2019-606, 2020-620, 2020-621, 2020-622, • Epilepsy 2020-628, 2020, 629. 2020-630. • Familial Hypercholesterolaemia • Non-malignant haematology DNA sequence data Diseases and disorders listed for Analysis of DNA sequence data Next generation sequencing