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 ccredited to Laboratory locations: Schedule of ccreditation United Kingdom ccreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK East of Scotland Regional Genetics Level 6 Ninewells Hospital Dundee DD1 9SY Contact: Dr Norman Pratt Tel: +44 (0) Fax: +44 (0) npratt@nhs.net Website: below s covered by the organisation and their relevant activities details ctivity code ddress Level 6 Ninewells Hospital Dundee DD1 9SY Local contact Dr David Baty Molecular Genetic, Cytogenetic, Molecular Pathology and Molecular Haematology testing ddress Cytogenetic Laboratory Raigmore Hospital Inverness IV2 3UJ Local contact bigail Moscardini Cytogenetic testing Specimen reception Processing bone marrow and blood samples Sample transfer to Dundee B ssessment Manager: CM Page 1 of 7

2 Schedule of ccreditation United Kingdom ccreditation Service ccredited to DETIL OF CCREDITTION HUMN TISSUES ND FLUIDS Blood mniotic fluid Chorionic villi Fresh tissue Paraffin-embedded tissue Saliva Urine Pre-examination techniques: utomated extraction platforms Qiagen QiaSymphony and EZ1dvanced XL (MGM084, MGM097, MGM230, MGE014, MGE023, MGE053, MGE063, MGM242, MGM247, MGM235, MGM248) Manual extraction of DN from blood, saliva and amniotic fluid samples. (MGM085, MGM106, MGM070) Quantitation of extracted DN using the Nanodrop ND (MGE014) Cell population enrichment from tissue sections using laser microdissection (NGLSM112, MGE073) PCR amplification of extracted DN using documented in-house procedures on BI Veriti thermocyclers. (MGM001, MGM207, MGM229, MGM237, MGE036) Capillary electrophoresis using documented in-house procedures on the BI3130 and 3730 genetic analysers. (MGE031, MGE035, MGE044, MGE045) ssessment Manager: CM Page 2 of 7

3 Schedule of ccreditation United Kingdom ccreditation Service ccredited to HUMN TISSUES ND Blood mniotic fluid Chorionic villi Fresh tissue Paraffin-embedded tissue Saliva Urine Pre-examination techniques : Gel electrophoresis to separate DN fragments using documented in-house procedures. (MGE034, MGE055) Pyrosequence analysis on Qiagen PyroMarkQ24 platforms using documented in-house procedures. (MGM174, MGM175, GEN064) DN extracted from the human tissues and fluids Detection of specific mutations associated with common and rare genetic disorders: Cystic fibrosis HFE-related hereditary haemochromatosis Thrombophilia (factor V Leiden and prothrombin mutation mplification refractory mutation detection system (RMS) using commercial and in-house validated assays. Macroscopic detection of bands after gel electrophoresis. (MGM024, MGM101) and capillary gel elecrophoresis (MGM252). Determination of intragenic repeat lengths associated with specified genetic disorders: Gilberts OPMD Dystonia CFTR PolyT tract Fragment analysis using documented in-house methods and BI3130 and/or 3730 genetic analysers (MGM098, GEN057, MGE031) ssessment Manager: CM Page 3 of 7

4 Schedule of ccreditation United Kingdom ccreditation Service ccredited to HUMN TISSUES ND DN extracted from the human tissues and fluids Determination of gene and chromosome copy number changes: Deletions and duplications associated with range of inherited genetic disorders MODY, MFS, DPKD, FP, PMD and CCM Rapid prenatal diagnosis of common trisomies (T13, T18 & T21) Multiplex Ligation-dependent Probe mplification (MLP) to detect deletions/duplications and/or fragment analysis by capillary electrophoresis on BI3130 and/or (MGM112, GEN065, GEN070) Screening genes for nucleotide changes associated with inherited disorders: RPKD DPKD Capillary malformations Cerebral cavernous malformations CN type1 and 2 Deafness nonsyndromic Inherited skin disorders MFS MCDD MEN1 and 2 NF1 Phaeochromocytoma Paraganglioma PMD TSC VHL Sanger sequencing, by capillary electrophoresis and examination and analysis of sequence data using software package Mutation Surveyor. (MGE035, MGE067, MGM220, MGM238, MGM012, MGM103) ssessment Manager: CM Page 4 of 7

5 Schedule of ccreditation United Kingdom ccreditation Service ccredited to HUMN TISSUES ND DN and RN (cdn) extracted from : Blood Fresh tissue Paraffin-embedded tissue Testing for specific genetic changes to aid diagnosis and/or inform prognosis and treatment options. KRS (targeted codons) NRS (targeted codons) BRF (codon 600) JK2 (targeted mutations) ckit (specific exons) PDGFR (specific exons) MPL (specific exon) CLR (deletion) Pyrosequence analysis on Qiagen PyroMarkQ24 platforms using documented in-house procedures. (MGM174, MGM175, GEN065) Capillary electrophoresis and examination and analysis of sequence data using software package Mutation Surveyor. (MGE035, MGM103) Fragment analysis using documented in-house methods and BI3130 and/or 3730 genetic analysers (MGM098, GEN057, MGE031) BCR-bl (transcript) Cepheid Xpert BCR-BL Monitor ssay and GeneXpert System (nucleic acid extraction, target amplification using RT-PCR and PCR) (MGM276) ssessment Manager: CM Page 5 of 7

6 Schedule of ccreditation United Kingdom ccreditation Service ccredited to HUMN TISSUES ND Cytogenetics examination activities for the purpose of clinical diagnosis Pre-examination techniques: Whole blood mniotic fluid CVS Lymph node Fresh tissue samples Cell culture using in house methods and commercial media. (NGLSM009, 013, 028, 029, 030, 031, 039, 044, 048, 045, 080, 088, 090, 103, 104, 105, 110, MGE083) & B Cell harvesting: (NGLSM011, 014, 033, 034, 045, 050, 057, 061, 062, 092, 103, 113) & B Chromosome preparation & banding using in-house methods. (NGLSM021, 024, 038) & B Cultured & uncultured cells Paraffin embedded tissues (PETs) Tumour imprints Purified plasma cells FISH preparation and hybridisation using in-house methods and commercial probes (Vysis; Cytocell; Kreatech (now Leica Microsystems); (Illumina; Zytovision, CMBIO; Cancer Genetics) ( NGLSM001, 002, 003, 123, MGE096, MGE077, NGLSM060, NGLSM074) ssessment Manager: CM Page 6 of 7

7 Schedule of ccreditation United Kingdom ccreditation Service ccredited to HUMN TISSUES ND Cytogenetics examination activities for the purpose of clinical diagnosis and commercial kits for automated and manual processing Extracted DN Structural and numerical examination of chromosomes for: Prenatal diagnosis Reproductive disorders Developmental disorders Haematological malignancies Solid tumour analysis G banded bright field analysis and karyotyping against considered normal pattern/profile for detection,of anomalies (GEN010, GEN013, MGE078, MGE089) Image analysis system (MGE081, NGLSM118) Genetic rearrangements and/or genomic imbalance Fluorescence microscopy for signal detection and analysis (GEN14) Image analysis system (MGE079, MGE081) END ssessment Manager: CM Page 7 of 7