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 NW Thames Regional Genetics Laboratory Northwick Park Hospital Watford Road Harrow HA1 3UJ United Kingdom Contact: Caroline Sullivan Tel: +44 (0) / 3109 / caroline.sullivan@nhs.net Testing performed at the above address only Website: FLUIDS Amniotic fluid, CVS, blood, solid tissue, bone marrow, lymph node, other Amniotic fluid, CVS, blood, solid tissue, bone marrow, lymph node, other DETAIL OF ACCREDITATION Karyotype analysis (prenatal, postnatal constitutional, haematology) Identification of targeted chromosome rearrangements and/or genomic imbalance (prenatal, postnatal constitutional, haematology) and Manufacturer s instructions for Manual karyotype analysis using microscopes Manual FISH analysis Zeiss Axoioplan2/Leica DM5500B fluorescence microscopes Cytovision software DNA/RNA Extraction for detection of abnormal sequences for common and rare genetic disease conditions Chemagen magnetic separation module Qiagen EZ1 DSP phenol/chloroform manual extraction Oragene saliva DNA extraction kit (manual) Iso-helix DNA extraction kit for DNA extraction from buccal cells Assessment Manager: GM3 Page 1 of 5

2 and Manufacturer s instructions for DNA/RNA Extraction for detection of abnormal sequences for common and rare genetic disease conditions igenatal kit for DNA extraction from prenatal samples QIAmp DNA mini kit for DNA extraction from solid tissue samples Tempus blood RNA isolation kit for RNA extraction Instagene kit for DNA extraction from prenatal samples DNA quantification of extracted DNA/RNA for detection of abnormal sequences for common and rare genetic disease conditions Nanodrop ND1000 Quantus fluorometer/ spectrophotometer DNA from blood, saliva, buccal cells, solid tissue DNA from amniotic fluid, CVS, including DNA Detection of clinically relevant genomic imbalance Array CGH (postnatal and prenatal) Agilent 8x60K oligo array slide Agilent G2505C scanner Agilent software Assessment Manager: GM3 Page 2 of 5

3 bone marrow, Guthrie cards, saliva, buccal cells, FFPE, including DNA DNA/RNA extracted from blood, Mutation for: Alexander disease Cystic Fibrosis (full gene analysis) Canavan Disease Familial adenomatous polyposis coli Lynch syndrome Juvenile polyposis syndrome MUTYH associated polyposis Peutz-Jeghers syndrome PTEN gene analysis BRCA1 and BRCA2 common Ashkenazi-specific mutations MUTYH associated polyposis common mutations Polymerase-proofreading associated polyposis common mutations KRAS/NRAS/BRAF oncogenic markers Thrombophilia predisposition Hereditary haemochromatosis Y deletion studies (AZFa, AZFb, AZFc) JAK2 V617F mutation MPL W515K & MPL W515L mutation NPM1/FLT3-ITD mutation Mutation by PCR, Sanger sequencing Thermocycler PCR machines Applied Biosystems (ABI) 2720, ABI Veriti, Biorad C1000 Touch, Agilent Surecycler 8800, Biorad Tetrad 2) ABI3130 and 3730 capillary electrophoresis machines Mutation Surveyor variant detection software MRCHolland MLPA kits for Canavan Disease, FAP, Lynch syndrome, Juvenile Polyposis syndrome, MUTYH, Peutz- Jeghers syndrome, PTEN analysis and Coffalyser software Targeted mutation analysis by PCR and Sanger sequencing Thermocycler PCR machines (Applied Biosystems (ABI) 2720, ABI Veriti, Biorad C1000 Touch, Agilent Surecycler 8800, Biorad Tetrad 2 ) ABI3130/3730 capillary electrophoresis machines Mutation surveyor variant detection software Targeted mutation analysis by PCR and agarose gel electrophoresis Thermocycler PCR machines (various models) Agarose gel electrophoresis tanks Assessment Manager: GM3 Page 3 of 5

4 Sex determination UPD7 & UPD14 testing NPM1/FLT3-ITD mutation Targeted mutation analysis by PCR and fluorescent fragment analysis Thermocycler PCR machines (various models) AB13130/3730 capillary electrophoresis and Cystic fibrosis newborn Elucigene CF4 and CF-EU2 kits for newborn for CF Cystic fibrosis postnatal routine Elucigene CF-EU2 kit for CF postnatal routine testing MRC-Holland MLPA kit for CF testing Identity and MCC Promega PowerPlex 16 kit Pregnancy loss (aneuploidy) Devyser QF-PCR aneuploidy kits for pregnancy loss testing MRCHolland MLPA sub telomere kits for pregnancy loss testing Fragile X syndrome Amplidex FMR1, amplidex methylation PCR kit for Fragile X Assessment Manager: GM3 Page 4 of 5

5 DNA extracted from blood or saliva, including DNA Cancer predisposition genes (Illumina TruSight Cancer panel: MLH1, MSH2, MSH6, BMPR1A, SMAD4, STK11, PTEN, BRCA1, BRCA2, TP53, APC, MUTYH, ATM, CHEK2, BRIP1, PALB2, CDH1, RAD51C, RAD51D, CDKN2A, CDK4) Next generation sequencing of Cancer predisposition genes Applied Biosystems thermocycler PCR machines (Veriti 9902) Agilent Bioanalyzer Illumina TruSight Cancer panel Illumina MiSeq with Variant Studio software, NextGENe software CFTR gene Next generation sequencing of CFTR gene Agilent Technologies thermocycler PCR machines (Surecycler 8800) Illumina MiSeq SureSelect library prep Surecall software END Assessment Manager: GM3 Page 5 of 5