Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
|
|
- Alannah Jordan
- 6 years ago
- Views:
Transcription
1 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) Website: 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
2 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
3 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, ,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
4 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
5 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
6 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
7 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
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
Schedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
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
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
SW Thames Regional Genetics Laboratory, Jenner Wing, SGUL Cranmer Terrace London SW17 0RE Contact: Mr John Short Tel: +44 (0) 208 725 5332 Fax: +44 (0) 208 725 3440 E-Mail: swtrgl@stgeorges.nhs.uk Website:
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
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:
More informationTEST MENU TEST CPT CODES TAT. Chromosome Analysis Bone Marrow x 2, 88264, x 3, Days
TEST MENU CANCER/LEUKEMIA CHROMOSOME ANALYSIS Chromosome Analysis Bone Marrow 88237 x 2, 88264, 88280 x 3, 88291 4 Days Chromosome Analysis Bone Marrow Core 88237 x 2, 88264, 88280 x 3, 88291 4 Days Chromosome
More informationCYTOGENETICS INTRODUCTION SPECIAL INSTRUCTIONS ON SAMPLE COLLECTION AND HANDLING
INTRODUCTION The Cytogenetics Laboratory offers a comprehensive array of chromosome investigations for cancers, constitutional abnormalities, and prenatal and postnatal diagnosis. Analyses are performed
More informationACMG/CAP Cytogenetics CY
www.cap.org Cytogenetics Analytes/procedures in bold type are regulated for proficiency testing by the Centers for Medicare & Medicaid Services ACMG/CAP Cytogenetics CY Analyte CY Challenges per Shipment
More informationUnderstanding the Human Karyotype Colleen Jackson Cook, Ph.D.
Understanding the Human Karyotype Colleen Jackson Cook, Ph.D. SUPPLEMENTAL READING Nussbaum, RL, McInnes, RR, and Willard HF (2007) Thompson and Thompson Genetics in Medicine, 7th edition. Saunders: Philadelphia.
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
Building 9 Contact: Dr Catherine Sturgeon BioQuarter Tel: +44 (0)131-2426885 Little France Road Fax: +44 (0)131-242-6882 E-Mail: c.sturgeon@ed.ac.uk Websites: http://edqas.org EH16 4UX Proficiency Testing
More informationOriginal Policy Date
MP 2.04.76 Genetic Counseling Medical Policy Section Medicine Issue 12:2013 Original Policy Date 12:2013 Last Review Status/Date Created Local Policy/ 12:2013 Return to Medical Policy Index Disclaimer
More informationSeptember 04, 2008
27027 Tourney Road Valencia, CA 91355 800 421 7110 www.specialtylabs.com Test Updates September 04, 2008 Dear Valued Client: As you may be aware, in recent years there has been a tremendous challenge in
More informationGenetics Quality and Accreditation workshop Manchester 17 th May 2017
Genetics Quality and Accreditation workshop Manchester 17 th May 2017 Katrina Rack Oxford CEQAS What is CEQAS Types of schemes Scheme update Highlights 2016 Key recommendations CEQAS Background External
More informationCytogenetics 101: Clinical Research and Molecular Genetic Technologies
Cytogenetics 101: Clinical Research and Molecular Genetic Technologies Topics for Today s Presentation 1 Classical vs Molecular Cytogenetics 2 What acgh? 3 What is FISH? 4 What is NGS? 5 How can these
More informationMolecular. Oncology & Pathology. Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine. Liquid Biopsy.
Molecular Oncology & Pathology Hereditary Cancer Somatic Cancer Liquid Biopsy Next-Gen Sequencing qpcr Sanger Sequencing Diagnostic, Prognostic, Therapeutic, and Predisposition Tests in Precision Medicine
More informationKaryology. Preparation and study of karyotypes is part of Cytogenetics.
Chromosomal Karyotyping Karyology Karyotyping - process of pairing and ordering all chromosomes of an organism, thus providing a genome-wide snapshot of an individual's chromosomes. Karyotypes describe
More informationOncology Genetics: Cytogenetics and FISH 17/09/2014
Oncology Genetics: Cytogenetics and FISH 17/09/2014 Chris Wragg Head of Oncology Genomics, BGL BGL Bristol Genetics Laboratory (BGL) CPA accredited Genetics laboratory serving a core population of 4-5million
More informationMOC MGP General Molecular Genetics I (Mandatory 75-Question Module) analytical measurement range; CLSI MM06-A2 PCR assay performance and validation
MOC MGP General Molecular Genetics I (Mandatory 75-Question Module) analytical measurement range; CLSI MM06-A2 PCR assay performance and validation assay validation; sensitivity; PCR interpretation and
More informationCardiovascular Molecular Cytogenetics Methylenetetrahydrofolate Oligodendrogliomas Reductase (MTHFR) Mutation SS18 (C677T & A1298C) QF-PCR Sample:
Genetics Testing Dorevitch Pathology offers a comprehensive range of molecular and cytogenetic tests covering a wide spectrum of clinical indications to help in the diagnosis, management and treatment
More informationLIST OF INVESTIGATIONS
Karyotyping: K001 K002 LIST OF INVESTIGATIONS SAMPLE CONTAINER TYPE cells For Karyotyping [Single] cells For Karyotyping [Couple] Vacutainer Vacutainer 7-8 7-8 K003 Fetal Blood Sample For Karyotyping Vacutainer
More informationClinical Cytogenomics Laboratory. Laboratory. Leading diagnostics for better medicine. Beaumont
Clinical Cytogenomics Laboratory Leading diagnostics for better medicine Beaumont Laboratory Beaumont Laboratory s Clinical Cytogenomics Lab Genome decoding is essential Knowledge of variations in genome
More informationAddressing the challenges of genomic characterization of hematologic malignancies using microarrays
Addressing the challenges of genomic characterization of hematologic malignancies using microarrays Sarah South, PhD, FACMG Medical Director, ARUP Laboratories Department of Pediatrics and Pathology University
More informationObjectives. Morphology and IHC. Flow and Cyto FISH. Testing for Heme Malignancies 3/20/2013
Molecular Markers in Hematologic Malignancy: Ways to locate the needle in the haystack. Objectives Review the types of testing for hematologic malignancies Understand rationale for molecular testing Marcie
More informationRole of FISH in Hematological Cancers
Role of FISH in Hematological Cancers Thomas S.K. Wan PhD,FRCPath,FFSc(RCPA) Honorary Professor, Department of Pathology & Clinical Biochemistry, Queen Mary Hospital, University of Hong Kong. e-mail: wantsk@hku.hk
More informationOxford BRC Haemato-Molecular Diagnostic Service
Short User Guide Oxford BRC Haemato-Molecular Diagnostic Service The Oxford University Hospitals NHS trust s department of Haematology provides a comprehensive molecular diagnostic service for a range
More informationOut-Patient Billing CPT Codes
Out-Patient Billing CPT Codes Updated Date: August 3, 08 Client Billed Molecular Tests HPV DNA Tissue Testing 8764 No Medicare Billed - Molecular Tests NeoARRAY NeoARRAY SNP/Cytogenetic No 89 NeoLAB NeoLAB
More informationUNIVERSITY OF PENNSYLVANIA GENETIC DIAGNOSTIC LABORATORY. Name of Test Turnaround Time Cost CPT codes
Beckwith-Wiedemann: methylation and copy number 3-4 weeks $800 81401x2, 81402, 81403 Beckwith-Wiedemann: CDKN1C sequencing 3 weeks $600 81404 Beckwith-Wiedemann: prenatal diagnosis for methylation and
More informationNeoTYPE Cancer Profiles
NeoTYPE Cancer Profiles Multimethod Analysis of 25+ Hematologic Diseases and Solid Tumors Anatomic Pathology FISH Molecular The next generation of diagnostic, prognostic, and therapeutic assessment NeoTYPE
More informationMOC MGP General Molecular Genetics I (Mandatory 75-Question Module) assay validation; sensitivity; oligodendroglioma, FISH CAP lab accreditation;
MOC MGP General Molecular Genetics I (Mandatory 75-Question Module) assay validation; sensitivity; oligodendroglioma, FISH CAP lab accreditation; phase II deficiency oligodendroglioma; chemotherapy response
More informationMolecular Markers. Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC
Molecular Markers Marcie Riches, MD, MS Associate Professor University of North Carolina Scientific Director, Infection and Immune Reconstitution WC Overview Testing methods Rationale for molecular testing
More informationOncology Cytogenetics Diagnostic Service - User Guide 2014
Oncology Cytogenetics Diagnostic Service - User Guide 2014 Contact details Address: Cytogenetics Department 5 th Floor Tower Wing Guy s Hospital Great Maze Pond London SE1 9RT General enquiries 0207 188
More informationCancer Genetics. What is Cancer? Cancer Classification. Medical Genetics. Uncontrolled growth of cells. Not all tumors are cancerous
Session8 Medical Genetics Cancer Genetics J avad Jamshidi F a s a U n i v e r s i t y o f M e d i c a l S c i e n c e s, N o v e m b e r 2 0 1 7 What is Cancer? Uncontrolled growth of cells Not all tumors
More informationCYTOGENETICS Dr. Mary Ann Perle
CYTOGENETICS Dr. Mary Ann Perle I) Mitosis and metaphase chromosomes A) Chromosomes are most fully condensed and clearly distinguishable during mitosis. B) Mitosis (M phase) takes 1 to 2 hrs and is divided
More informationUNIVERSITY OF PENNSYLVANIA GENETIC DIAGNOSTIC LABORATORY
GNA FOP Familial Adenomatous Polyposis Beckwith-Wiedemann Syndrome Methylation and high resolution copy number analysis of 11p15.5 with automatic reflex to CDKN1C if negative Methylation analysis of 11p15.5
More informationNew and Developing Technologies for Genetic Diagnostics National Genetics Reference Laboratory (Wessex) Salisbury, UK - July 2010 BACs on Beads
New and Developing Technologies for Genetic Diagnostics National Genetics Reference Laboratory (Wessex) Salisbury, UK - July 2010 BACs on Beads Susan Gross, MD Division of Reproductive Genetics Professor
More informationGenetic Testing Methods
THE JACKSON LABORATORY Genetic Testing Methods CLINICAL AND CONTINUING EDUCATION About this resource THE GOAL The goal of this resource is to improve the primary care provider s knowledge about commonly
More informationIntroducing Western Diagnostic s Genomic Pathology
Genetic Testing Introducing Western Diagnostic s Genomic Pathology As one of Australia s longest running and nationally coordinated DNA testing organisations, Western Diagnostic s Genomic Pathology perform
More informationMyelodysplasia/Myeloproliferative Neoplasms (MDS/MPN) Post-HCT Data
Instructions for Myelodysplasia/Myeloproliferative Neoplasms (MDS/MPN) Post-HCT Data (Form 2114) This section of the CIBMTR Forms Instruction Manual is intended to be a resource for completing the Myelodysplasia/Myeloproliferative
More informationNeoTYPE Cancer Profiles
NeoTYPE Cancer Profiles 30+ Multimethod Assays for Hematologic Diseases and Solid Tumors Molecular FISH Anatomic Pathology The next generation of diagnostic, prognostic, and therapeutic assessment What
More informationTransform genomic data into real-life results
CLINICAL SUMMARY Transform genomic data into real-life results Biomarker testing and targeted therapies can drive improved outcomes in clinical practice New FDA-Approved Broad Companion Diagnostic for
More informationCanadian College of Medical Geneticists (CCMG) Cytogenetics Examination. May 4, 2010
Canadian College of Medical Geneticists (CCMG) Cytogenetics Examination May 4, 2010 Examination Length = 3 hours Total Marks = 100 (7 questions) Total Pages = 8 (including cover sheet and 2 pages of prints)
More informationTherapy-related acute myeloid leukemia with germline TP53 mutation (Li-Fraumeni syndrome) SH Chelsey Deel MD Teresa Scordino MD
Therapy-related acute myeloid leukemia with germline TP53 mutation (Li-Fraumeni syndrome) SH2017-167 Chelsey Deel MD Teresa Scordino MD Clinical History HPI: 44 year old Caucasian female referred for evaluation
More informationAn Overview of Cytogenetics. Bridget Herschap, M.D. 9/23/2013
An Overview of Cytogenetics Bridget Herschap, M.D. 9/23/2013 Objectives } History and Introduction of Cytogenetics } Overview of Current Techniques } Common cytogenetic tests and their clinical application
More informationHST.161 Molecular Biology and Genetics in Modern Medicine Fall 2007
MIT OpenCourseWare http://ocw.mit.edu HST.161 Molecular Biology and Genetics in Modern Medicine Fall 2007 For information about citing these materials or our Terms of Use, visit: http://ocw.mit.edu/terms.
More informationCharacterisation of structural variation in breast. cancer genomes using paired-end sequencing on. the Illumina Genome Analyser
Characterisation of structural variation in breast cancer genomes using paired-end sequencing on the Illumina Genome Analyser Phil Stephens Cancer Genome Project Why is it important to study cancer? Why
More informationMolecular Genetics of Paediatric Tumours. Gino Somers MBBS, BMedSci, PhD, FRCPA Pathologist-in-Chief Hospital for Sick Children, Toronto, ON, CANADA
Molecular Genetics of Paediatric Tumours Gino Somers MBBS, BMedSci, PhD, FRCPA Pathologist-in-Chief Hospital for Sick Children, Toronto, ON, CANADA Financial Disclosure NanoString - conference costs for
More informationscfish: A Primer Peter K. Rogan, Ph.D. Joan H. M. Knoll, Ph.D., FACMG, FCCMG Children s Mercy Hospitals and Clinics Tuesday, July 29, 2003
scfish: A Primer Peter K. Rogan, Ph.D. Joan H. M. Knoll, Ph.D., FACMG, FCCMG Children s Mercy Hospitals and Clinics Tuesday, July 29, 2003 FISH: A Molecular Cytogenetic Test Complementary nucleic acid
More informationAmerican Society of Cytopathology Core Curriculum in Molecular Biology
American Society of Cytopathology Core Curriculum in Molecular Biology American Society of Cytopathology Core Curriculum in Molecular Biology Chapter 1 Molecular Basis of Cancer Molecular Oncology Keisha
More informationGeneral Approach to Genetic Testing
Protocol General Approach to Genetic Testing (20491) (Formerly Genetic Testing for Inherited Disorders) Medical Benefit Effective Date: 01/01/14 Next Review Date: 09/14 Preauthorization Yes Review Dates:
More informationAugust 17, Dear Valued Client:
August 7, 08 Re: CMS Announces 6-Month Period of Enforcement Discretion for Laboratory Date of Service Exception Policy Under the Medicare Clinical Laboratory Fee Schedule (the 4 Day Rule ) Dear Valued
More informationmolecular oncology services
Molecular Oncology molecular oncology services ATIENTS.ANSWERS.RESULTS. www.aruplab.com/oncology MARCH 2018 Information in this brochure is current as of March 2018. All content is subject to change. lease
More informationSchedule of Accreditation issued by United Kingdom Accreditation Service 2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK
2 Pine Trees, Chertsey Lane, Staines-upon-Thames, TW18 3HR, UK Clinical Transplantation Laboratory (CTL) 3rd Floor Tower Wing Guy's Hospital SE9 1RT Contact: Jeremy Skinner Tel: +44 (0)2071881713 E-Mail:
More informationAnalysis of Massively Parallel Sequencing Data Application of Illumina Sequencing to the Genetics of Human Cancers
Analysis of Massively Parallel Sequencing Data Application of Illumina Sequencing to the Genetics of Human Cancers Gordon Blackshields Senior Bioinformatician Source BioScience 1 To Cancer Genetics Studies
More informationNew: P077 BRCA2. This new probemix can be used to confirm results obtained with P045 BRCA2 probemix.
SALSA MLPA KIT P045-B2 BRCA2/CHEK2 Lot 0410, 0609. As compared to version B1, four reference probes have been replaced and extra control fragments at 100 and 105 nt (X/Y specific) have been included. New:
More informationCAP Accreditation of Genetics Testing Laboratories
CAP Accreditation of Genetics Testing Laboratories Secretary s Advisory Committee on Genetics, Health, And Society March 26, 2007 Gail Vance, MD, FCAP College of American Pathologists Overview Shared Goals
More informationCytogenetics Technologies, Companies & Markets
Cytogenetics Technologies, Companies & Markets By Prof. K. K. Jain MD, FRACS, FFPM Jain PharmaBiotech Basel, Switzerland November 2018 A Jain PharmaBiotech Report A U T H O R ' S B I O G R A P H Y Professor
More informationApproach to Intellectual Disability
Approach to Intellectual Disability Dr Prajnya Ranganath Definition Significant sub-average intellectual function existing concurrently with deficits in adaptive behaviour and manifested during the developmental
More informationSchool of Pathology and Laboratory Medicine: Current and New Research Interests
School of Pathology and Laboratory Medicine: Current and New Research Interests W/Professor Wendy Erber Current Research Interests Viral immunology and immunogenetics Bone pathology and cell signalling
More informationWhat s the Human Genome Project Got to Do with Developmental Disabilities?
What s the Human Genome Project Got to Do with Developmental Disabilities? Disclosures Neither speaker has anything to disclose. Phase Two: Interpretation Officially started in October 1990 Goals of the
More informationPersonalised cancer care Information for Medical Specialists. A new way to unlock treatment options for your patients
Personalised cancer care Information for Medical Specialists A new way to unlock treatment options for your patients Contents Optimised for clinical benefit 4 Development history 4 Full FIND IT panel vs
More informationCost-Effective Strategies in the Workup of Hematologic Neoplasm. Karl S. Theil, Claudiu V. Cotta Cleveland Clinic
Cost-Effective Strategies in the Workup of Hematologic Neoplasm Karl S. Theil, Claudiu V. Cotta Cleveland Clinic In the past 12 months, we have not had a significant financial interest or other relationship
More informationMolecular Genetic Pathology CC Exam Module Study Guide
Registrants for the MGP only or combined Primary/MGP CC exam must take the mandatory general MGP module plus any elective HEM modules selected during registration. CC MGP General Molecular Genetics I (Mandatory
More informationMEDICAL POLICY Gene Expression Profiling for Cancers of Unknown Primary Site
POLICY: PG0364 ORIGINAL EFFECTIVE: 04/22/16 LAST REVIEW: 07/26/18 MEDICAL POLICY Gene Expression Profiling for Cancers of Unknown Primary Site GUIDELINES This policy does not certify benefits or authorization
More informationAppendix 6: Indications for adult allogeneic bone marrow transplant in New Zealand
Appendix 6: Indications for adult allogeneic bone marrow transplant in New Zealand This list provides indications for the majority of adult BMTs that are performed in New Zealand. A small number of BMTs
More informationAn Update on PGD: Where we are today
An Update on PGD: Where we are today Joyce Harper UCL Centre for PG&D and CRGH Institute for Womens Health University College London Overview What is PGD/PGS How we do it Disadvantages and advantages Future
More informationNucleic Acid Testing - Oncology. Molecular Diagnosis. Gain/Loss of Nucleic Acid. Objectives. MYCN and Neuroblastoma. Molecular Diagnosis
Nucleic Acid Testing - Oncology Molecular Diagnosis Nucleic acid based testing in Oncology Gross alterations in DNA content of tumors (ploidy) Gain/Loss of nucleic acids Markers of Clonality Oncogene/Tumor
More informationMolecular Diagnosis. Nucleic acid based testing in Oncology
Molecular Diagnosis Nucleic acid based testing in Oncology Objectives Describe uses of NAT in Oncology Diagnosis, Prediction, monitoring. Genetics Screening, presymptomatic testing, diagnostic testing,
More informationProposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider
Proposal form for the evaluation of a genetic test for NHS Service Gene Dossier/Additional Provider TEST DISEASE/CONDITION POPULATION TRIAD Submitting laboratory: Birmingham RGC Approved: September 2012
More informationApproach to the Genetic Diagnosis of Neurological Disorders
Approach to the Genetic Diagnosis of Neurological Disorders Dr Wendy Jones MBBS MRCP Great Ormond Street Hospital for Children National Hospital for Neurology and Neurosurgery What is a genetic diagnosis?
More informationSharan Goobie, MD, MSc, FRCPC
Sharan Goobie, MD, MSc, FRCPC Chromosome testing in 2014 Presenter Disclosure: Sharan Goobie has no potential for conflict of interest with this presentation Objectives Review of standard genetic investigations
More informationCorporate Medical Policy
Corporate Medical Policy Invasive Prenatal (Fetal) Diagnostic Testing File Name: Origination: Last CAP Review: Next CAP Review: Last Review: invasive_prenatal_(fetal)_diagnostic_testing 12/2014 3/2018
More informationClassification of Hematologic Malignancies. Patricia Aoun MD MPH
Classification of Hematologic Malignancies Patricia Aoun MD MPH Objectives Know the basic principles of the current classification system for hematopoietic and lymphoid malignancies Understand the differences
More informationYour single-source laboratory solution. FISH Probe Library
Your single-source laboratory solution. FISH Probe Library Alphabetical List by Probe with Clinical Indication Probe Clinical Indication 1p36 (TP73)/19q13 (GLTSCR) 1q21 (CKS1B) 5q (CSF1R/RPS14) 7q (MDFIC)
More informationApplications of IHC. Determination of the primary site in metastatic tumors of unknown origin
Applications of IHC Determination of the primary site in metastatic tumors of unknown origin Classification of tumors that appear 'undifferentiated' by standard light microscopy Precise classification
More information24-Feb-15. Learning objectives. Family genetics: The future??? The traditional genetics. Genetics and reproduction in early 2015.
Learning objectives Family genetics: The future??? Peter Illingworth Medical Director IVFAustralia Understand how genetic problems may affect successful conception Consider the possible conditions and
More informationNOSCAN CLINICAL MANAGEMENT GUIDELINE (CMG) AND NOSCAN CHEMOTHERAPY REVIEW (NCR) STATUS DOCUMENT May Status (G / A / R) Status (G / A / R)
Item 18-13c NOSCAN CLINICAL MANAGEMENT GUIDELINE (CMG) AND NOSCAN CHEMOTHERAPY REVIEW (NCR) STATUS DOCUMENT May 2013 BREAST CANCER MCN: Breast Disease: Breast Document ready to circulate lead to be discussed
More informationChromosome microarray analysis in routine prenatal diagnosis practice: a prospective study on 3000 consecutive clinical cases
Chromosome microarray analysis in routine prenatal diagnosis practice: a prospective study on 3000 consecutive clinical cases Fiorentino F, Napoletano S, Caiazzo F, Sessa M, Bono S, Spizzichino L, Gordon
More informationMRC-Holland MLPA. Description version 06; 23 December 2016
SALSA MLPA probemix P417-B2 BAP1 Lot B2-1216. As compared to version B1 (lot B1-0215), two reference probes have been added and two target probes have a minor change in length. The BAP1 (BRCA1 associated
More informationIntroduction to Genetics
Introduction to Genetics Table of contents Chromosome DNA Protein synthesis Mutation Genetic disorder Relationship between genes and cancer Genetic testing Technical concern 2 All living organisms consist
More informationDISEASE / DISORDER Price Routine TAT (Calendar Days) Achondroplasia + Hypochondroplasia FGFR3 Common mutations in FGFR3
DISEASE / DISORDER Price Routine TAT (Calendar Days) Achondroplasia + Hypochondroplasia 205 FGFR3 Common mutations in FGFR3 Gene(s) or locus Description of test Category (1138 G>A/C and 1620C>A/G) Adrenal
More informationCMS will not implement the new tier codes for Medicare/Medicaid claims for calendar year 2012.
January 1, 2012 Re: 2012 AMA CPT Code Changes Dear Valued Client: The American Medical Association (AMA) has made Current Procedural Terminology (CPT) code changes to the 2012 edition of the CPT coding
More informationMohammed El-Khateeb. Tumor Genetics. MGL-12 July 21 st 2013 台大農藝系遺傳學 Chapter 22 slide 1
Mohammed El-Khateeb Tumor Genetics MGL-12 July 21 st 2013 台大農藝系遺傳學 601 20000 Chapter 22 slide 1 Cellular Basis of Cancer Cancer is a collection of diseases characterized by abnormal and uncontrolled growth
More informationMolecular Advances in Hematopathology
Molecular Advances in Hematopathology HOW MOLECULAR METHODS HAVE CHANGED MY PRACTICE Objectives Understand the importance of cytogenetic/molecular studies in hematolymphoid diseases Know some of the important
More informationBasic Definitions. Dr. Mohammed Hussein Assi MBChB MSc DCH (UK) MRCPCH
Basic Definitions Chromosomes There are two types of chromosomes: autosomes (1-22) and sex chromosomes (X & Y). Humans are composed of two groups of cells: Gametes. Ova and sperm cells, which are haploid,
More informationChapter 11 Gene Expression
Chapter 11 Gene Expression 11-1 Control of Gene Expression Gene Expression- the activation of a gene to form a protein -a gene is on or expressed when it is transcribed. -cells do not always need to produce
More informationCurrent and future applications of Molecular Pathology. Kathy Walsh Clinical Scientist NHS Lothian
Current and future applications of Molecular Pathology Kathy Walsh Clinical Scientist NHS Lothian Molecular Pathology in Solid tumours Cancer type Genes tested Purpose Associated treatments Non small cell
More informationCenters for Medicare and Medicaid Services
Centers for Medicare and Medicaid Services Clinical Laboratory Fee Schedule Annual Laboratory Public Meeting June 25, 2018 Anthony Sireci, MD, Msc Association for Molecular Pathology Outline Germline Procedures
More informationNEHODS - Northern England Haemato-Oncology Diagnostic Service
NEHODS User Guide Scope/Purpose This user guide provides key information about the NEHODS SIHMDS service and its users, including lists of key contacts both within the service and within the Northern Region
More informationa resource for physicians Recommended Referral Timing for Stem Cell Transplant Evaluation
a resource for physicians Recommended Referral Timing for Stem Cell Transplant Evaluation This resource has been developed to help guide you regarding the appropriate timing and conditions for a referral
More informationLab Guide 2018 Diagnostic Genomic Division(DGD)
Lab Guide 2018 Diagnostic Genomic Division(DGD) Diagnostic Genomic Division DGD lab Guide Page 1 of 74 Cytogenetics Section Title ACUTE MYELOID LEUKEMIA PANEL BY FISH ITEM Days test is performed Turnaround
More informationSALSA MLPA probemix P315-B1 EGFR
SALSA MLPA probemix P315-B1 EGFR Lot B1-0215 and B1-0112. As compared to the previous A1 version (lot 0208), two mutation-specific probes for the EGFR mutations L858R and T709M as well as one additional
More informationIntroduction to Fetal Medicine: Genetics and Embryology
Introduction to Fetal Medicine: Genetics and Embryology Question: What do cancer biology, molecular biology, neurobiology, cell biology developmental biology and reproductive biology, all have in common?
More informationOverview of Cancer. Mylene Freires Advanced Nurse Practitioner, Haematology
Overview of Cancer Mylene Freires Advanced Nurse Practitioner, Haematology Aim of the Presentation Review basic concepts of cancer Gain some understanding of the socio-economic impact of cancer Order of
More informationWhat is New in Genetic Testing. Steven D. Shapiro MS, DMD, MD
What is New in Genetic Testing Steven D. Shapiro MS, DMD, MD 18th Annual Primary Care Symposium Financial and Commercial Disclosure I have a no financial or commercial interest in my presentation. 2 Genetic
More informationEpigenetics and Chromatin Remodeling
Epigenetics and Chromatin Remodeling Bradford Coffee, PhD, FACMG Emory University Atlanta, GA Speaker Disclosure Information Grant/Research Support: none Salary/Consultant Fees: none Board/Committee/Advisory
More informationA Presentation to: ABA. Howard M. Sandler, M.D. Sandler Occupational Medicine Associates, Inc. April 2008
Genetics, Testing and Toxic Torts A Presentation to: ABA Howard M. Sandler, M.D. Sandler Occupational Medicine Associates, Inc. April 2008 Common Genetic Disorders Disorder Mutation Chromosome 22q11.2
More informationQIAGEN Complete Solutions for Liquid Biopsy Molecular Testing
QIAGEN Complete Solutions for Liquid Biopsy Molecular Testing Christopher Swagell, PhD Market Development Manager, Advanced Molecular Pathology QIAGEN 1 Agenda QIAGEN Solid Tumor Testing and Liquid Biopsy
More informationSALSA MLPA probemix P175-A3 Tumour Gain Lot A3-0714: As compared to the previous version A2 (lot A2-0411), nine probes have a small change in length.
SALSA MLPA probemix P175-A3 Tumour Gain Lot A3-0714: As compared to the previous version A2 (lot A2-0411), nine probes have a small change in length. This SALSA probemix is for basic research only! This
More informationVolume 7, Issue 1 January 2012
The Hong Kong College of Pathologists, Incorporated in Hong Kong with Limited Liability Volume 7, Issue 1 January 2012 Editorial note: Chronic lymphocytic leukaemia (CLL) is the commonest chronic lymphoproliferative
More informationGenomic Instability. Kent Nastiuk, PhD Dept. Cancer Genetics Roswell Park Cancer Institute. RPN-530 Oncology for Scientist-I October 18, 2016
Genomic Instability Kent Nastiuk, PhD Dept. Cancer Genetics Roswell Park Cancer Institute RPN-530 Oncology for Scientist-I October 18, 2016 Previous lecturers supplying slides/notes/inspiration Daniel
More informationSignificance of Chromosome Changes in Hematological Disorders and Solid Tumors
Significance of Chromosome Changes in Hematological Disorders and Solid Tumors Size of Components of Human Genome Size of haploid genome 3.3 X 10 9 DNA basepairs Estimated genetic constitution 30,000
More information