2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Accredited to ISO 15189:2012 Laboratory Genetics Level 2B, Laboratory Medicine Queen Elizabeth University Hospital Govan Road Glasgow G51 4TF Contact: Nicola Williams Tel: +44 (0) 141 354 9313 Email: nicola.williams@ggc.scot.nhs.uk Website: http://www.nhsggc.org.uk/ Testing performed at the above address only DETAIL OF ACCREDITATION Amniotic Fluid Chorionic Villus Slide sections Mouth washes/ Buccal cells Foetal blood Fresh tissue (tumour, muscle, liver, lymph nodes etc) Other tissues (products of conception) Bone Marrow Bone marrow trephines diagnosis Angelman syndrome Bardet-Biedl Syndrome Becker Muscular Dystrophy (BMD) Birt Hogg Dubé Breast and Ovarian Cancer (hereditary) CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) Colorectal cancer, acquired CHARGE syndrome CLOVE Syndrome Dilated cardiomyopathy (DCM) (DES, LMNA)Duchenne Muscular Dystrophy (DMD) Episodic Ataxia (CACNA1A) type 2 Fibrodysplasia Ossificans progressiva Hereditary Spastic Paraplegia Infantile Onset Epilepsies (inc CACNA1A) Lesch Nyhan Syndrome Lung cancer, acquired Li-Fraumeni Syndrome Limb Girdle Muscular Dystrophy (type 2) type 2I (FKRP)and 2R (DES) Limb Girdle Muscular Dystrophy 1B (LMNA) Sequencing by, ABI 3130 and/or 3730 capillary sequencers using SOPs;-Exam-8, 21, 11, 124 Supported by extraction of DNA and RNA using one of the following robotic extraction platforms Chemagic STAR, Maxwell 16,) and one of the following kits: Chemagic STAR Blood DNA 2K kit, Maxwell 16 ffpe plus LEV DNA purification kit, Maxwell 16 FFPE tissue LEV DNA purification kit, Maxwell 16 LEV blood and buccal LEV DNA purification kit, Maxwell 16 LEV RNA FFPE kit, kit Assessment Manager: CM Page 1 of 8
diagnosis Amniotic Fluid Chorionic Villus Slide sections Mouth washes/ Buccal cells Foetal blood Fresh tissue (tumour, muscle, liver, lymph nodes etc) Other tissues (products of conception) Bone Marrow Bone marrow trephines As listed on page 1 Followed by amplification of DNA / cdna by PCR using any of the following: ABI 384 well Veriti PCR ABI 96 well Veriti PCR, ABI Geneamp 9700, Biometra T Personal, Biometra T Professional Basic, GRI Gradient PTC-200, Proflex 3x32 well thermal cycler, PTC 100 Thermal cycler, T3000 Thermocycler Using SOPs;-EXAM- 10, 119,123, 162, 192 Malignant Melanoma, hereditary Malignant Melanoma, acquired TP53 somatic mutations Neurohypophyseal Diabetes Insipidus, Familial Rett syndrome and Rett-like syndrome Smith-Lemli-Opitz X-linked ichthyosis Sequencing by ABI 3130 and/or 3730 capillary sequencers using SOPs;-Exam-8, 21, 11, 124 Supported by extraction of DNA and RNA using one of the following robotic extraction platforms: Chemagic STAR, Maxwell 16,) and one of the following kits :- Chemagic STAR Blood DNA 2K kit, Maxwell 16 ffpe plus LEV DNA purification kit, Maxwell 16 FFPE tissue LEV DNA purification kit, Maxwell 16 LEV blood and buccal LEV DNA purification kit, Maxwell 16 LEV RNA FFPE kit, kit Assessment Manager: CM Page 2 of 8
diagnosis Haematological malignancies Myeloproliferative neoplasms Chronic myeloid leukaemia Acute lymphocytic leukaemia Acute myeloid leukaemia TPMT BCR-ABL Post-transplant (BMT) Chimaerism Waldenstroms macroglobulinaemia (MYD88 p.(l265p)) Chronic lymphocytic leukaemia (TP53) Microsatellite instability Followed by amplification of DNA / cdna by PCR using any of the following: ABI 384 well Veriti PCR ABI 96 well Veriti PCR ABI Geneamp 9700, Biometra T Personal, Biometra T Professional Basic, GRI Gradient PTC-200, Proflex 3x32 well thermal cycler, PTC 100 Thermal cycler, T3000 Thermocycler Using SOPs;-EXAM- 10, 119,123, 162, 192 Sequencing ABI 3130 and/or 3730 capillary sequencers. with analysis and reporting using one or more of: Mutation Surveyor, GeneMarker Using SOPs EXAM-8, 21, 11, 124 94,95 and LIMS-10 - Supported by extraction of DNA and RNA using one of the following robotic extraction platforms: Chemagic STAR, Maxwell 16,) with one of the following kits :- Chemagic STAR Blood DNA 2K kit, kit: Assessment Manager: CM Page 3 of 8
diagnosis Haematological malignancies Myeloproliferative neoplasms Chronic myeloid leukaemia Acute lymphocytic leukaemia Acute myeloid leukaemia TPMT BCR-ABL Post-transplant (BMT) Chimaerism Followed by mplification using Realtime q-pcr by any of the following: 7500 Real Time PCR System, 7900HT Fast Real time PCR system, monitoring BCR-ABL fusion transcripts ABI 384 well Veriti PCR ABI 96 well Veriti PCR ABI Geneamp 9700, Biometra T Personal, Biometra T Professional Basic, GRI Gradient PTC-200, Proflex 3x32 well thermal cycler, PTC 100 Thermal cycler, T3000 Thermocycler Using SOPs;-EXAM-109, 158, 177, 129, 72 Assessment Manager: CM Page 4 of 8
Amniotic Fluid Chorionic Villus Slide sections Mouth washes/ Buccal cells Foetal blood Fresh tissue (tumour, muscle, liver, lymph nodes etc) Other tissues (products of conception) Bone Marrow Bone marrow trephines diagnosis Angelman syndrome Becker Muscular Dystrophy (BMD) Beckwith-Wiedemann syndrome (BWS) Birt Hogg Dubé Breast and Ovarian Cancer (hereditary) CHARGE syndrome Congenital Hypothyroidism Dilated cardiomyopathy (DCM)Disorders of Sexual Development DiGeorge Syndrome Duchenne Muscular Dystrophy (DMD) Familial Juvenile Nephthronopthisis Hereditary Spastic Paraplegia Infantile Onset Epilepsy Lesch Nyhan Syndrome Li-Fraumeni Syndrome (TP53) Microdeletion/ microduplication syndromes Phenylketonuria Prader-Willi syndrome Rett syndrome and Rett-like syndrome Short Statue, SHOX Related Silver-Russell syndrome X-linked ichthyosis (XLI) Sequencing by ABI 3130 and/or 3730 capillary sequencers with Multiplex Ligation Probe Amplification (MLPA) including Methylation-Specific Multiplex Ligation Probe Amplification (MS- MLPA) using SOPs;-Exam-8, 21, 11, 124 with analysis and reporting using one or more of: Mutation Surveyor LIMS-10 and Gene Marker Software Using LIMS- SOPs- EXAM;-6,16,17,18,19,20,21,30,33, 35,36,37,38,39,40,41,47,48,49,50,1 64,17 Supported by extraction of DNA and RNA using robotic extraction platform Chemagic STAR, Maxwell 16,) and one of the following kits: :- Chemagic STAR Blood DNA 2K kit, Maxwell 16 ffpe plus LEV DNA purification kit, Maxwell 16 FFPE tissue LEV DNA purification kit, Maxwell 16 LEV blood and buccal LEV DNA purification kit, Maxwell 16 LEV RNA FFPE kit, kit Using SOPs;- EXAM-1, 2, 3, 4, 13, 42, 56, 70, 98, 100, 101, 104, 105, 111, 156, 157 Assessment Manager: CM Page 5 of 8
Amniotic Fluid Chorionic Villus Slide sections Mouth washes/ Buccal cells Foetal blood Fresh tissue (tumour, muscle, liver, lymph nodes etc) Other tissues (products of conception) Bone Marrow Bone marrow trephines diagnosis Cystic Fibrosis Fragile X syndrome Fragile X Tremor Ataxia Syndrome (FXTAS) Premature Ovarian Failure Colorectal cancer, acquired Microsatellite instability (MSI) Lung Cancer, Acquired Myotonic Dystrophy Post-transplant (BMT) chimerism analysis Rapid Prenatal diagnosis of Trisomies Sex determination Squamous cell head and neck cancer Y-chromosome deletions X-chromosomes inactivation Allele specific assays: Hereditary Haemochromatosis Lymphoproliferative neoplasms Glioma, high grade Sarcoma Sickle Cell Anaemia Sequencing by BiomekNXp, ABI 3130 and/or 3730 capillary sequencers using SOPs;-Exam-8, 21, 11, 124 Supported by extraction of DNA and RNA using one of the following robotic extraction platforms Chemagic STAR, Maxwell 16,) and one of the following kits :- Chemagic STAR Blood DNA 2K kit, Maxwell 16 ffpe plus LEV DNA purification kit, Maxwell 16 FFPE tissue LEV DNA purification kit, Maxwell 16 LEV blood and buccal LEV DNA purification kit, Maxwell 16 LEV RNA FFPE kit, kit Using SOPs;- EXAM-1, 2, 3, 4, 13, 42, 56, 70, 98, 100, 101, 104, 105, 111, 156, 157 Followed by amplification of DNA / cdna by PCR using any of the following: ABI 384 well Veriti PCR ABI 96 well Veriti PCR ABI Geneamp 9700, Biometra T Personal, Biometra T Professional Basic, GRI Gradient PTC-200, Proflex 3x32 well thermal cycler, PTC 100. T3000 Thermal cycler Assessment Manager: CM Page 6 of 8
DNA extracted from blood FFPE embedded Solid Tumour Lymph Nodes Bone Marrow Aspirate Bone Marrow Trephine Peripheral Blood Embryo biopsy Molecular Diagnostics: to detect genomic rearrangements for clinical diagnosis Hereditary breast/ovarian cancers BRCA1 BRCA2 Epilepsy (104 gene panel) Breast cancer, acquired o Her2 Lung cancer, acquired o Alk Lymphoproliferative neoplasms: Burkitt s lymphoma Diffuse large B cell lymphoma MALT Lymphoma Mantle cell lymphoma Follicular lymphoma Lymphoma NOS Myeloma CLL Haemato-oncology ALL AML MPN, Sex mismatch chimerism Glioma Sarcoma Squamous cell head and neck cancer Uveal Melanoma Mesothelioma Pre-implantation genetic diagnosis for the identification of inherited chromosome rearrangements Next Generation Sequencing Illumina MiSeq, NextSeq550 Using SOPs;-EXAM-290, EXAM- 293, EXAM-297 In house manual and automated (VP2000) methods for Fluorescent In Situ Hybridisation (FISH) analysis ;- using commercial probes, fluorescent microscopes, and Cytovision image capture software. Using SOPs;-EXAM 56, 63, 68, 84 94, 95, 245, 221, 269 and REP- 7 Fluorescence microscopy for signal detection and analysis Image analysis system Leica CytoVision EXAM 245 PGD FISH-EXAM- 273 Assessment Manager: CM Page 7 of 8
HUMAN TISSUES AND FLUIDS Cytogenetics examination activities for the purpose of clinical diagnosis Documented in-house methods and commercial kits for automated and manual processing Bone marrow setting up including white cell count- Automated cell separation and cell count platforms AutoMACS Sysmex XP-300 EXAM 261, 262 Manual harvest of haematological cancer samples, EXAM-264 Whole blood Amniotic fluid CVS Bone marrow Lymph node Fresh tissue samples Detection and delineation of structural abnormalities in: Prenatal diagnosis Reproductive disorders Developmental disorders Haematological malignancies Solid tumour analysis Chromosome preparation & banding using in-house methods. Metaphase Slide Preparation EXAM-231 G banded bright field analysis and karyotyping Image analysis system Leica GSL120 Leica CytoVision Chromosome analysis -Exam 229 Extracted DNA Genetic rearrangements and/or genomic imbalance Constitutional disorders in line with CytoSNP850 Microarray processing using Illumina NextSeq550 and CytoSNP array using SOPs;- EXAM-257, ERC-INS- 9 Microarray analysis using Bluefuse Multi Software EXAM-255 END Assessment Manager: CM Page 8 of 8