Newborn Screening for Severe Combined Immunodeficiency (SCID) by Quantifying T-cell Receptor Excision Circles (TREC)
|
|
|
- Suzan Davis
- 5 years ago
- Views:
Transcription
1 Newborn Screening for Severe Combined Immunodeficiency (SCID) by Quantifying T-cell Receptor Excision Circles (TREC) Patricia R. Slev, PhD, D(ABCC) Medical Director, Serologic Hepatitis and Retrovirus Laboratory, ARUP Assistant Professor, Department of Pathology, University of Utah School of Medicine July, 2013
2 None Disclosures
3 Objectives Understand the importance of newborn screening for SCID Explain why quantifying T-cell receptor excision circles (TREC) is utilized to detect newborns with SCID Describe quantitative real-time PCR assay for TREC Describe current status of newborn screening for SCID
4 Severe Combined Immunodeficiency Genotypes
5 IL2RG Mutations Adapted from IL2RG database, Puck et al.
6 SCID T-cell lymphopenia Adapted from SCID website (Duke University)
7 SCID Newborn Screening Incidence Frequency estimated (1/50,000-1/100,000) in US population Treatment hematopoietic stem cell transplant (HSCT), enzyme replacement, gene therapy Diagnosis Missed - often due to normal appearance in the newborn period - results in death in the first year of life Timing - optimizes treatment outcome and reduces morbidity < 3.0 months = 95% survival > 3.0 months = 70% survival Screening Test T- Cell Receptor Excision Circle (TREC)
8 T-cell Receptor Excision Circles (TREC) Definition Circular DNA formed as a byproduct of successful T-cell receptor rearrangement, which occurs in the thymus Characteristics Present within CD4+ and CD8+ T-cells 1 or 2 copies per cell (initially) Do not replicate during mitosis
9 Rec Signal Joint TREC TCRα locus V V Rec D J C J J C // // // // D J Most of TCRD gene C sjtrec Circular DNA formed as a byproduct of successful T-cell receptor rearrangement (TCR alpha chain rearrangement, deleting the delta locus) Present only in T-cells (both CD4+ and CD8+) Rec TREC concentrations correlate with number of newly formed, rearranged T-cells emigrating from the thymus and are a general marker for T-cell numbers
10 TREC as a Screen for Newborn SCID Advantages Maternal contamination is avoided because infants have high numbers of new T-cells and TRECs, whereas mothers have low numbers of TRECs More easily incorporated into current newborn screening protocols than a CBC (dried blood spots)
11 Primary Immunodeficiency Disorders (typically low TREC)
12 Primary Immunodeficiency Disorders (variably low TREC)
13 Secondary Disorders (low TREC) Adapted from CLSI Document
14 Protocol DNA Extraction TREC real-time qpcr -actin real-time qpcr Guthrie Card Dried Blood Spot LightCycler 480 (Plate)
15 Real-time Quantitative Polymerase Chain Reaction (TaqMan) Amplify and quantify TREC DNA Amplify and quantify reference gene DNA Plasmids are used as standards TaqMan Probe - sequence specific - fluorescent signal
16 Reference Gene Concentrations
17 TREC Concentrations
18 Utah Pilot Study 4,999 dried blood samples (DBS) 4,665 non- NICU 344 NICU TREC Singleplex Assay TREC concentrations -actin concentrations (reference gene)
19 Results
20 Sample numbers TREC Concentrations in Non-NICU DBS TREC concentration (copies/µl)
21 Sample numbers TREC Concentrations in NICU DBS TREC concentration (copies/µl)
22 Sample numbers Pilot Study Results TREC concentration distribution in healthy and NICU babies Healthy babies frequency NICU babies frequency TREC concentration (copies/µl)
23 TREC concentration (copies/μl) Trec concentration (copies/µl) TREC Concentrations vs. Birth Weight Birth weight (gr) Birth weight <2000 gr Birth weight (gr)
24 Frequency Low TREC Concentrations TREC conc frequency count (59 samples with conc of up to 300 copies/ul, 1.2% of samples) TREC conc (copies/µl)
25 TREC Data Summary NICU vs. Non- NICU Number / % TREC (copies/µl whole blood) mean TREC (copies/ul whole blood) median TREC (copies/µl whole blood) minimum TREC (copies/µl whole blood) maximum NICU 344 /6.9% Non- NICU 4,655/93.1% Combined 4,999/100%
26 Summary Cutoff TREC copies/ul whole blood Detects all CDC SCID positive DBS Detects SCID newborns Reticular Dysgenesis, ADA 8 samples with low TREC required repeat testing 6/8 resolved 2/8 repeatedly below the cutoff premature (590g,1310g)
27 Wisconsin 71,000 infants cutoff 25 TREC copies/ul whole blood 64,397 Full-term infants 6603 Preterm infants 64,362 Normal TREC 12 Abnormal TREC 4N/6A repeat 23 Inconclusive 19N/1A repeat 6484 Normal TREC 23 Abnormal TREC 12N/3A repeat 37 wks 96 Inconclusive 72 N/1A 37 wks 11 reflexed to flow 3 normal flow cytometry 8 abnormal flow cytometry Adapted from Routes et al. JAMA 2010.
28 Massachusetts (Multiplex )Results Cutoff 252 copies TREC/uL Thompson et al. Clin Chem.2010
29 Abnormal Results and Immunodeficiency SCID - < 300 T-cells/uL SCID Variant leaky SCID, Omenn Syndrome unknown gene defect (300-1,500 T-cell/uL) Non SCID immundeficiency not due to SCID, i.e trisomy 21 Adapted from executive summary report on SCID
30 Incidence (California) Adapted from executive summary report on SCID
31 Clinical Characteristics of SCID Cases Adapted from executive summary report on SCID
32 NON SCID Cases Adapted from executive summary report on SCID
33 Treatment Adapted from executive summary report on SCID
34 SCID is fatal unless treated Take Home Points Prompt treatment for SCID infants significantly increases survival SCID infants do not have any symptoms at birth, making prompt diagnosis difficult T-cell receptor excision circles (TREC) assays are currently being used to screen newborns for SCID TRECs are not specific for SCID, but markers for T-cell lymphopenia, recent thymic emigrant T-cells Cut-off for TREC concentrations vary from state to state and are method dependent Screening for SCID with TREC 100% sensitivity 98% specificity
35 National SCID Screening July 1, 2013 Adapted from executive summary report on SCID
36 Acknowledgements Utah Department of Health (UDOH) Dr. Harper Randall Kim Hart University of Utah/ARUP Dr. Harry Hill Dr. Marzia Pasquali Dr. Noriko Kusukawa Dr.Carl Wittwer Dr. Orly Ardon Jorja Warren Wei Xie Mike Graczyk Andy Lorance Wisconsin State Laboratory of Hygiene Dr. Mei Baker Primary Children s Medical Center Dr. Karin Chen
37 Thank you!
38 Quantification (Standard Curve) C t
An Evolution of Michigan s SCID Algorithm
An Evolution of Michigan s SCID Algorithm A qualitative approach for the T cell receptor excision circle (TREC) assay for the detection of primary immune deficiency syndromes (PIDS) demonstrates better
Chapter 26. Newborn Screening
Chapter 26 Newborn Screening Severe Combined Immune Deficiency (SCID) leads to life-threatening infections unless the immune system can be restored through a bone marrow transplant, enzyme replacement
Newborn Screening for SCID and T Cell Lymphopenia
Newborn Screening for SCID and T Cell Lymphopenia Jennifer Puck, MD Jennifer.Puck@ucsf.edu Department of Pediatrics University of California San Francisco and Benioff Children s Hospital San Francisco,
Disclosures. Newborn Screening for Severe Combined Immune Deficiency Syndromes (SCIDS): Why; why now? Learning objectives.
Newborn Screening for Severe Combined Immune Deficiency Syndromes (SCIDS): Why; why now? Anthony J. Infante, MD, PhD Professor, Pediatrics and Microbiology & Immunology Chief, Division of Immunology &
Adam S. Coleman, Ph.D.
The Challenges of Severe Combined Immunodeficiency Screening in a Two Screen State 9/13/2017 Laboratories Administration 73,000 births annually 2 sample state for NBS Adam S. Coleman, Ph.D. Supervisor,
INFANTS WITH SEVERE T-CELL LYMphopenia,
ORIGINAL CONTRIBUTION Statewide Newborn Screening for Severe T-Cell Lymphopenia John M. Routes, MD William J. Grossman, MD, PhD James Verbsky, MD, PhD Ronald H. Laessig, PhD Gary L. Hoffman, BS Charles
CALIFORNIA NEWBORN SCREENING FOR SCID. Joseph A. Church, M.D. Children s Hospital Los Angeles and Keck School of Medicine at U.S.C.
CALIFORNIA NEWBORN SCREENING FOR SCID Joseph A. Church, M.D. Children s Hospital Los Angeles and Keck School of Medicine at U.S.C. CELLS, DNA AND GENES HOW GENES GO WRONG - MUTATIONS MONOGENIC TRAIT: Determined
CLSI Guidelines on Newborn Screening for Severe Combined Immunodeficiency (SCID)
CLSI Guidelines on Newborn Screening for Severe Combined Immunodeficiency (SCID) Lisa Kobrynski, MD, MPH Marcus Professor of Immunology Department of Pediatrics Emory University, Atlanta, GA Clinical Laboratory
Immunology, Asthma and Allergy Research Institute (IAARI)
Immunology, Asthma and Allergy Research Institute (IAARI) Prenatal and postnatal genetic diagnosis of PIDs: From routine methods to new molecular assessments for newborn screening Maryam Nourizadeh (PhD
Neonatal screening for PID. T cell defects (SCID) B cell defects (XLA) Phagocytic disorders (CGD) Complement defects (C2, P)
Lennart Hammarström Stephan Borte Ulrika von Döbeln Clinical Immunology Karolinska Institutet at KUS Huddinge γc JAK 3 Pro NK Periphery NK Common lymphoid progenitors Haematopoetic stem cells γc JAK 3
Disorder name: Severe Combined Immunodeficiency Acronym: SCID
Genetic Fact Sheets for Parents Other Disorders Screening, Technology, and Research in Genetics is a multi-state project to improve information about the financial, ethical, legal, and social issues surrounding
Using Multiples of the Median (MoM) for Normalization of TREC Results Meets the Need for Standardized SCID Reporting
Using Multiples of the Median (MoM) for Normalization of TREC Results Meets the Need for Standardized SCID Reporting 2013 Joint Meeting of the Newborn Screening and Genetic Testing Symposium and the International
SCID Secondary Conditions Identified by the Texas Newborn Screening Program
SCID Secondary Conditions Identified by the Texas Newborn Screening Program Debra Freedenberg M.D. PhD, Rachel Lee PhD, Daisy Johnson, Ginger Scott, Kim LaBoard, and Karen Hess Texas Department of State
CDC Laboratory Support
Newborn Bloodspot Screening for Severe Combined Immune Deficiency (NBS-SCID) CDC Laboratory Support APHL Webcast Robert F. Vogt, Jr., Ph.D. Research Chemist Newborn Screening and Molecular Biology Branch
Case Presentations in Primary Immune Deficiency Diseases. John W. Sleasman, M.D. St Petersburg, FL Mark Ballow, M.D. Buffalo NY & Sarasota, FL
Case Presentations in Primary Immune Deficiency Diseases John W. Sleasman, M.D. St Petersburg, FL Mark Ballow, M.D. Buffalo NY & Sarasota, FL COPD and recurrent infections 42 WF non- smoker with diagnosis
The Alphabet Soup of Viral Hepatitis Testing
The Alphabet Soup of Viral Hepatitis Testing August 18, 2011 Patricia Slev, PhD, DABCC Medical Director, Serologic Hepatitis and Retrovirus Laboratory, ARUP Laboratories Assistant Professor of Pathology,
Draft. EVIDENCE REVIEW: Severe Combined Immunodeficiency (SCID)
EVIDENCE REVIEW: Severe Combined Immunodeficiency (SCID) Prepared for: ADVISORY COMMITTEE ON HERITABLE DISORDERS AND GENETIC DISEASES IN NEWBORNS AND CHILDREN Version: 11/12/08 Authors: Ellen Lipstein,
Adenosine deaminase severe combined immunodeficiency (ADA-SCID)
Adenosine deaminase severe combined immunodeficiency (ADA-SCID) Christopher A. Haynes, PhD Service Fellow, CDC National Conversation: Tandem Mass Spectrometry in Newborn Screening February 5-6, 2015 National
Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay
International Journal of Neonatal Screening Review Newborn Screening for Severe Combined Immunodeficiency-A History of the TREC Assay Mary T. Bausch-Jurken 1, James W. Verbsky 2 and John M. Routes 1, *
Short Communication. Int Arch Allergy Immunol 2016;171: DOI: /
Short Communication Int Arch Allergy Immunol 216;171:136 14 DOI: 1.119/49 Received: March 24, 216 Accepted after revision: September 2, 216 Published online: December 1, 216 Limitation of Simultaneous
Sequencing in Newborn Screening Introduction and Background
Sequencing in Newborn Screening Introduction and Background Suzanne Cordovado, PhD Newborn Screening and Molecular Biology Branch Division of Laboratory Sciences Centers for Disease Control and Prevention
Newborn screening for severe combined immunodeficiency: a primer for clinicians
SEPSIS CPD Newborn screening for severe combined immunodeficiency: a primer for clinicians Catherine M. Biggs MD, Elie Haddad MD PhD, Thomas B. Issekutz MD, Chaim M. Roifman MD, Stuart E. Turvey MBBS DPhil
Assessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory
Assessing the follow-up of BART hemoglobin reported by the Wisconsin Newborn Screening Laboratory Bao Yang MPH Candidate Background The Wisconsin Newborn Screening (NBS) Laboratory screens 70,000 babies
The human thymus is the central lymphoid organ that provides
Reevaluation of T Cell Receptor Excision Circles as a Measure of Human Recent Thymic Emigrants 1 Ping Ye and Denise E. Kirschner 2 The human thymus exports newly generated T cells to the periphery. As
Total genomic DNA was extracted from either 6 DBS punches (3mm), or 0.1ml of peripheral or
Material and methods Measurement of telomere length (TL) Total genomic DNA was extracted from either 6 DBS punches (3mm), or 0.1ml of peripheral or cord blood using QIAamp DNA Mini Kit and a Qiacube (Qiagen).
Trends in molecular diagnostics
Trends in molecular diagnostics Detection of target genes of interest Quantification Infectious diseases HIV Hepatitis C & B TB / MAC Cytomegalovirus Herpes simplex Varicella zoster CT/GC HPV Profiling
Immune Reconstitution Following Hematopoietic Cell Transplant
Immune Reconstitution Following Hematopoietic Cell Transplant Patrick J. Kiel, PharmD, BCPS, BCOP Clinical Pharmacy Specialist Indiana University Simon Cancer Center Conflicts of Interest Speaker Bureau
In Search of a Salient Marker of Immune Function for Population Health Research
In Search of a Salient Marker of Immune Function for Population Health Research Lydia Lydia Feinstein, Feinstein, ab Elizabeth Elizabeth McClure, McClure, b Jennifer Jennifer B Dowd, B Dowd, c and and
Flow of samples and information for newborn screening in a model of publicprivate
Flow of samples and information for newborn screening in a model of publicprivate partnership Marzia Pasquali, PhD, FACMG Associate Professor of Pathology, University of Utah Medical Director, Biochemical
Hepatitis B Antiviral Drug Development Multi-Marker Screening Assay
Hepatitis B Antiviral Drug Development Multi-Marker Screening Assay Background ImQuest BioSciences has developed and qualified a single-plate method to expedite the screening of antiviral agents against
Diagnostic Methods of HBV and HDV infections
Diagnostic Methods of HBV and HDV infections Zohreh Sharifi,ph.D Blood Transfusion Research Center, High Institute for Research and Education in Transfusion Medicine Hepatitis B-laboratory diagnosis Detection
November Janet Marcadier, MSc, CCGC, CGC Genetic Counsellor Newborn Screening Ontario, Children s Hospital of Eastern Ontario
November 2012 Janet Marcadier, MSc, CCGC, CGC Genetic Counsellor Newborn Screening Ontario, Children s Hospital of Eastern Ontario Objectives 1. To outline the provincial advisory committee structure 2.
Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance
Median Normalization of Newborn Screening Analyte Data to Improve Screening Performance T Henry 1, C Wolf 2, M McCann 2, and S Berberich 1 1 Iowa Newborn Screening Program 2 Minnesota Newborn Screening
Introduction 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
Short Term Follow Up Tandem Mass Spectrometry Workshop Agenda
Short Term Follow Up Tandem Mass Spectrometry Workshop Agenda June 11-15, 2018 APHL Headquarters 8515 Georgia Ave Silver Spring, MD 20910 This meeting is sponsored by the Association of Public Health Laboratories
Molecular Detection of BCR/ABL1 for the Diagnosis and Monitoring of CML
Molecular Detection of BCR/ABL1 for the Diagnosis and Monitoring of CML Imran Mirza, MD, MS, FRCPC Pathology & Laboratory Medicine Institute Sheikh Khalifa Medical City, Abu Dhabi, UAE. imirza@skmc.ae
RNA PCR, Proviral DNA and Emerging Trends in Infant HIV Diagnosis
RNA PCR, Proviral DNA and Emerging Trends in Infant HIV Diagnosis 1 B R E N D A N M C M U L L A N I N F E C T I O U S D I S E A S E S, S Y D N E Y C H I L D R E N S H O S P I T A L S C H O O L O F W O
Corporate 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
Maryland Department of Health and Mental Hygiene 201 W. Preston Street Baltimore, Maryland 21201
STATE OF MARYLAND DHMH Maryland Department of Health and Mental Hygiene 201 W. Preston Street Baltimore, Maryland 21201 Martin O Malley, Governor Anthony G. Brown, Lt. Governor Joshua M. Sharfstein, M.D.,
CYP21A2 Mutations Found in Congenital Adrenal Hyperplasia Patients in the California Population
CYP21A2 Mutations Found in Congenital Adrenal Hyperplasia Patients in the California Population Christopher N. Greene, Ph.D. Newborn Screening and Molecular Biology Branch National Center for Environmental
Collection of Dried Blood Spots from Infants for Diagnosis of HIV by DNA PCR. MOH Regional Trainings March 2013
Collection of Dried Blood Spots from Infants for Diagnosis of HIV by DNA MOH Regional Trainings March 2013 Outline Introduce DBS testing Rationale Testing algorithm Sample collection, storage and transportation
Viral Hepatitis Diagnosis and Management
Viral Hepatitis Diagnosis and Management CLINICAL BACKGROUND Viral hepatitis is a relatively common disease (25 per 100,000 individuals in the United States) caused by a diverse group of hepatotropic agents
NEWBORN METABOLIC SCREEN, MINNESOTA
Lab Dept: Test Name: Chemistry NEWBORN METABOLIC SCREEN, MINNESOTA General Information Lab Order Codes: Synonyms: CPT Codes: Test Includes: PKUN Newborn Screen for Hyopothyroidism, Phenylketonuria (PKU),
HEPATITIS C, ACUTE CRUDE DATA. Number of Cases 5 Annual Incidence a LA County 0.05 California b 0.10 United States b 0.68 Age at Diagnosis Mean 38
2016 Annual Morbidity Report HEPATITIS C, ACUTE a Rates calculated based on less than 19 cases or events are considered unreliable b Calculated from: CDC. Notice to Readers: Final 2016 Reports of Nationally
DATA SHEET. Provided: 500 µl of 5.6 mm Tris HCl, 4.4 mm Tris base, 0.05% sodium azide 0.1 mm EDTA, 5 mg/liter calf thymus DNA.
Viral Load DNA >> Standard PCR standard 0 Copies Catalog Number: 1122 Lot Number: 150298 Release Category: A Provided: 500 µl of 5.6 mm Tris HCl, 4.4 mm Tris base, 0.05% sodium azide 0.1 mm EDTA, 5 mg/liter
Disclosures. Committee on Blood and Blood Products) Co-investigator CBS Small Project. in Solid Organ Transplant Recipients
Neonatal Transfusion: Irradiation and CMV 6 th Annual Blood Matters Conference November 6 th, 2015 Disclosures Member of NAC (National Advisory Committee on Blood and Blood Products) Co-investigator CBS
Targeted qpcr. Debate on PGS Technology: Targeted vs. Whole genome approach. Discolsure Stake shareholder of GENETYX S.R.L
Antonio Capalbo, PhD Laboratory Director GENETYX, reproductive genetics laboratory, Italy PGT responsible GENERA centers for reproductive medicine, Italy Debate on PGS Technology: Targeted vs. Whole genome
MA PERINATAL HEPATITIS B PREVENTION PROGRAM
MA PERINATAL HEPATITIS B PREVENTION PROGRAM Massachusetts Department of Public Health Immunization Program MIAP 2016 1 1 Presenter Disclosure Information I, Theodora Wohler, have been asked to disclose
New 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
Understanding Diagnostic Tests for Immunodeficiency
Understanding Diagnostic Tests for Immunodeficiency Manish J. Butte, M.D. Ph.D. Assistant Professor mjbutte@stanford.edu http://tcell.stanford.edu September 21, 2013 PEDIATRICS What are we testing for?
Chapter 2 Hepatitis B Overview
Chapter 2 Hepatitis B Overview 23 24 This page intentionally left blank. HEPATITIS B OVERVIEW Hepatitis B Virus The hepatitis B virus (HBV) belongs to the Hepadnaviridae family and is known to cause both
Immunodeficiency. By Dr. Gouse Mohiddin Shaik
Immunodeficiency By Dr. Gouse Mohiddin Shaik Immunodeficieny Immunodeficiency is failure of immune system to protect against disease or malignency Immunodeficiency is of two types Primary Secondary immunodeficiency
CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE. Dr. Bahar Naghavi
2 CURRENT GENETIC TESTING TOOLS IN NEONATAL MEDICINE Dr. Bahar Naghavi Assistant professor of Basic Science Department, Shahid Beheshti University of Medical Sciences, Tehran,Iran 3 Introduction Over 4000
Congenital CMV (ccmv) Initiatives Across the United States: A Panel Discussion
Congenital CMV (ccmv) Initiatives Across the United States: A Panel Discussion Stephanie Browning McVicar, Au.D. Kirsten Coverstone, Au.D. Ginger Mullin, Au.D. Learning Objectives 1: Discuss CMV initiatives
Development of a Multiplex CYP21A2 Genotyping Assay for Congenital Adrenal Hyperplasia Screening
Development of a Multiplex CYP21A2 Genotyping Assay for Congenital Adrenal Hyperplasia Screening Christopher N. Greene, Ph.D. Newborn Screening and Molecular Biology Branch National Center for Environmental
Table of Contents (continued)
Emerging Molecular and Immunohematology Blood Typing, Grouping And Infectious Disease NAT Screening Assays And Companies Developing New Technologies and Products Table of Contents 1. Blood Typing and Grouping
Alvaro Serrano Russi MD University of Iowa Hospitals and Clinics
Retrospective Analysis of the Region 4 Post Analytical Tool and Confirmatory Testing for Long Chain Fatty Acid Oxidation Disorders Screened in the State of Iowa Alvaro Serrano Russi MD University of Iowa
IN UTERO HEMATOPOIETIC STEM CELL TRANSPLANTATION IN CANINES: THE GESTATIONAL WINDOW OF OPPORTUNITY TO MAXIMIZE ENGRAFTMENT
IN UTERO HEMATOPOIETIC STEM CELL TRANSPLANTATION IN CANINES: THE GESTATIONAL WINDOW OF OPPORTUNITY TO MAXIMIZE ENGRAFTMENT Karin J. Blakemore, M.D. Division of Maternal-Fetal Medicine The Bone Marrow Transplant
NHS public health functions agreement
NHS public health functions agreement 2016-17 Service specification No.1 Neonatal hepatitis B immunisation programme Classification: official NHS England INFORMATION READER BOX Directorate Medical Commissioning
THE USE OF WT1-QPCR TO MEASURE AND DETECT MINIMAL RESIDUAL DISEASE IN ACUTE MYELOID LEUKEMIA. Ava Greco
THE USE OF WT1-QPCR TO MEASURE AND DETECT MINIMAL RESIDUAL DISEASE IN ACUTE MYELOID LEUKEMIA Ava Greco REVIEW OF LITERATURE What is Leukemia? Abnormal growth of cells in the blood stream Progresses rapidly
Corporate Medical Policy
Corporate Medical Policy Genetic Testing for Alpha Thalassemia File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_alpha_thalassemia 9/2013 7/2017 7/2018 7/2017 Description
Saving Lives Through Newborn Screening: Making the Most of a Simple Blood Test
Saving Lives Through Newborn Screening: Making the Most of a Simple Blood Test February 26, 2018 John D. Thompson, PhD, MPH, MPA Director - NBS Program Washington State Public Health Laboratories What
Information for health professionals
Changes to the Newborn Bloodspot Screening Policy for Congenital Hypothyroidism (CHT) in Preterm Babies A UK policy change has been agreed that will mean changes to: which preterm babies require second
NHS public health functions agreement Service specification No.1 Neonatal hepatitis B immunisation programme
NHS public health functions agreement 2017-18 Service specification No.1 Neonatal hepatitis B immunisation programme NHS public health functions agreement 2017-18 Service specification No.1Neonatal hepatitis
Clinical Aspect and Application of Laboratory Test in Herpes Virus Infection. Masoud Mardani M.D,FIDSA
Clinical Aspect and Application of Laboratory Test in Herpes Virus Infection Masoud Mardani M.D,FIDSA Shahidhid Bh BeheshtiMdi Medical lui Universityit Cytomegalovirus (CMV), Epstein Barr Virus(EBV), Herpes
Evaluation of Dried Blood Spots (DBS) for Human Immunodeficiency Virus (HIV-1) Drug Resistance Testing
Evaluation of Dried Blood Spots (DBS) for Human Immunodeficiency Virus (HIV-1) Drug Resistance Testing Dawit Assefa 2, Woldaregay E.Abegaz 3, Teferi Gedif 2, Belete Tegbaru 1, Dereje Teshome 1, Tesfaye
IVF Michigan, Rochester Hills, Michigan, and Reproductive Genetics Institute, Chicago, Illinois
FERTILITY AND STERILITY VOL. 80, NO. 4, OCTOBER 2003 Copyright 2003 American Society for Reproductive Medicine Published by Elsevier Inc. Printed on acid-free paper in U.S.A. CASE REPORTS Preimplantation
Standard of Newborn Care in the Age of Birth Plans. Stephanie Deal, MD Tiffany McKee-Garrett, MD
Standard of Newborn Care in the Age of Birth Plans Stephanie Deal, MD Tiffany McKee-Garrett, MD Disclosure We have no relevant financial relationships with the manufacturers(s) of any commercial products(s)
Hepatitis C Virus (HCV) & Infectious Disease 101 for Hubs & Spokes April 24, :00 pm 1:00 pm
Hepatitis C Virus (HCV) & Infectious Disease 101 for Hubs & Spokes April 24, 2018 12:00 pm 1:00 pm Presenters: Thomas E. Freese, PhD, Larissa Mooney, MD, & Rachel McLean, MPH, Chief, Office of Viral Hepatitis
Screening for Congenital CMV Infection
London s Global University Screening for Congenital CMV Infection Venice April 25 2016 Paul D Griffiths MD DSc FRCPath Professor of Virology UCL Institute of Immunity and Transplantation Overview Definition
CLL Complete SM Report
Reported: 02/01/2012 Σ CGI ID No:5 Client:r Client Address: CLINICAL DATA: Lymphoma No CBC results provided. CLL Complete SM Report FINAL DIAGNOSIS: CD19+ B cell lymphoma, ZAP-70 + (44%), with borderline
patients with blood borne viruses Controlled Document Number: Version Number: 4 Controlled Document Sponsor: Controlled Document Lead:
CONTROLLED DOCUMENT Procedure for the management of patients with blood borne viruses CATEGORY: CLASSIFICATION: PURPOSE Controlled Document Number: Version Number: 4 Controlled Document Sponsor: Controlled
Complicated viral infections
Complicated viral infections Clinical case discussion Diagnostic dilemmas NSW State Reference Laboratory for HIV St Vincent s Hospital Sydney Diagnostic dilemmas Indeterminate or discordant serology (western
Human Rotavirus A. genesig Advanced Kit. Non structural protein 5 (NSP5) 150 tests. Primerdesign Ltd. For general laboratory and research use only
TM Primerdesign Ltd Human Rotavirus A Non structural protein 5 (NSP5) genesig Advanced Kit 150 tests For general laboratory and research use only 1 Introduction to Human Rotavirus A Rotavirus is a genus
Opportunities Created by Diagnostic HCV and HIV Nucleic Acid Tests
Opportunities Created by Diagnostic HCV and HIV Nucleic Acid Tests Ann Winters, MD Medical Director, Viral Hepatitis Program, Bureau of Communicable Disease, New York City Department of Health and Mental
Early Intervention: The Importance of Newborn Screening
Early Intervention: The Importance of Newborn Screening July is the 50 th anniversary of screening newborns for genetic, endocrine and metabolic diseases. Missouri Kids Count is celebrating one of our
Blood Types and Genetics
Blood Types and Genetics Human blood type is determined by codominant alleles. An allele is one of several different forms of genetic information that is present in our DNA at a specific location on a
IMMEDIATE HOT LINE: Effective January 6, 2014
MEDICARE COVERAGE OF LABORATORY TESTING Please remember when ordering laboratory tests that are billed to Medicare/Medicaid or other federally funded programs, the following requirements apply: 1. Only
Thymic function in MHC class II deficient patients
Thymic function in MHC class II deficient patients Atar Lev, MSc, a,b Amos J. Simon, BSc, a,b Arnon Broides, MD, c Jacob Levi, MD, c Ben Zion Garty, MD, d Ester Rosenthal, MSc, a Ninette Amariglio, PhD,
Hepatitis B Update. Jorge L. Herrera, M.D. University of South Alabama Mobile, AL. Gastroenterology
Hepatitis B Update Jorge L. Herrera, M.D. University of South Alabama Mobile, AL Deciding Who to Treat Is hepatitis B a viral disease or a liver disease? Importance of HBV-DNA Levels in the Natural History
Supplemental Materials and Methods Plasmids and viruses Quantitative Reverse Transcription PCR Generation of molecular standard for quantitative PCR
Supplemental Materials and Methods Plasmids and viruses To generate pseudotyped viruses, the previously described recombinant plasmids pnl4-3-δnef-gfp or pnl4-3-δ6-drgfp and a vector expressing HIV-1 X4
Development of B and T lymphocytes
Development of B and T lymphocytes What will we discuss today? B-cell development T-cell development B- cell development overview Stem cell In periphery Pro-B cell Pre-B cell Immature B cell Mature B cell
Follicular Lymphoma: the WHO
Follicular Lymphoma: the WHO and the WHERE? Yuri Fedoriw, MD Associate Professor of Pathology and Laboratory Medicine Director of Hematopathology University of North Carolina Chapel Hill, NC Disclosure
Gourmet Gala SPONSORSHIP PROPOSAL. May 8 th, National Building Museum WHEN WHERE
Gourmet Gala SPONSORSHIP PROPOSAL WHEN May 8 th, 2019 WHERE National Building Museum A CHEF COOK-OFF OF CAPITOL PROPORTIONS Join us for the 37 th Annual where U.S. Senators and Representatives will serve
Platinum Sponsorship Opportunities. Western New York s BEST
Platinum Sponsorship Opportunities Western New York s BEST 1 October 24, 2017 Salvatore s Italian Garden s 6461 Transit Road, Buffalo, NY 14043 The March of Dimes CARES The mission of the March of Dimes
Sponsorship Opportunities
Sponsorship Opportunities Western New York s BEST October 24, 2017 Salvatore s Italian Garden s 6461 Transit Road, Buffalo, NY 14043 1 The March of Dimes CARES The mission of the March of Dimes is to improve
Diagnostic Methods of HBV infection. Zohreh Sharifi,ph.D of Virology Research center, Iranian Blood Transfusion Organization (IBTO)
Diagnostic Methods of HBV infection Zohreh Sharifi,ph.D of Virology Research center, Iranian Blood Transfusion Organization (IBTO) Hepatitis B-laboratory diagnosis Detection of HBV infection involves
NATURAL HISTORY OF HEPATITIS B
NATURAL HISTORY OF HEPATITIS B AND DIAGNOSTIC: STATE OF THE ART O. BAHRI LABORATORY OF MEDICAL BIOLOGY AZIZA OTHMANA HOSPITAL TUNIS, TUNISIA The 2 nd Congress of The Federation of Arab Societies of Clinical
Viral Hepatitis. Dr Melissa Haines Gastroenterologist Waikato Hospital
Viral Hepatitis Dr Melissa Haines Gastroenterologist Waikato Hospital Viral Hepatitis HAV HBV HCV HDV HEV Other viral: CMV, EBV, HSV Unknown Hepatitis A Hepatitis A Transmitted via the faecal-oral route
Cook Children s HI Center. Paul Thornton Medical Director Cook Children s Hyperinsulinism Center
Cook Children s HI Center Paul Thornton Medical Director Cook Children s Hyperinsulinism Center Formed in Oct 2010 Cook Children s HI Center Mission: To provide excellence in medical care to patients with
Micropathology Ltd. University of Warwick Science Park, Venture Centre, Sir William Lyons Road, Coventry CV4 7EZ
www.micropathology.com info@micropathology.com Micropathology Ltd Tel 24hrs: +44 (0) 24-76 323222 Fax / Ans: +44 (0) 24-76 - 323333 University of Warwick Science Park, Venture Centre, Sir William Lyons
Chlamydia pneumoniae PCR reagents Detection with real time PCR reagents
Chlamydia pneumoniae PCR reagents Detection with real time PCR reagents Overview:... 1 Products... 2 C. pneumoniae FAM-BHQ1 Primer-probe PP3400 0.055ml... 2 AttoMaster 2X Mix for qpcr AM10 1.25 ml... 2
Is It Possible to Prevent Necrotizing Enterocolitis?
Is It Possible to Prevent Necrotizing Enterocolitis? Ravi Mangal Patel, MD MSc Associate Professor of Pediatrics Emory University School of Medicine, Atlanta, GA, USA @institutopgg @ravimpatelmd Disclosures
The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep
SUPPLEMENTARY INFORMATION The autoimmune disease-associated PTPN22 variant promotes calpain-mediated Lyp/Pep degradation associated with lymphocyte and dendritic cell hyperresponsiveness Jinyi Zhang, Naima
Zika Pregnancy and Birth Defects Surveillance
Zika Pregnancy and Birth Defects Surveillance Sowmya Adibhatla, MPH Zika Surveillance and Response Coordinator Overview History/Background Zika cases update Zika virus infection Testing guidance Recommendations
Molecular Diagnosis Future Directions
Molecular Diagnosis Future Directions Philip Cunningham NSW State Reference Laboratory for HIV/AIDS & Molecular Diagnostic Medicine Laboratory, SydPath St Vincent s Hospital Sydney Update on Molecular
Human Rotavirus A. genesig Standard Kit. Non structural protein 5 (NSP5) 150 tests. Primerdesign Ltd. For general laboratory and research use only
TM Primerdesign Ltd Human Rotavirus A Non structural protein 5 (NSP5) genesig Standard Kit 150 tests For general laboratory and research use only 1 Introduction to Human Rotavirus A Rotavirus is a genus
HAEMOPHILUS INFLUENZAE INVASIVE DISEASE
23 Annual Morbidity Report HAEMOPHILUS INFLUENZAE INVASIVE DISEASE CRUDE DATA 35 Annual Incidence a LA County.37 California b. United States c.2 Age at Diagnosis Mean 4. years Median 36. years Range Birth
LSD EASY AND EFFICIENT SCREENING. NeoLSD MSMS kit
EASY AND EFFICIENT LSD NeoLSD MSMS kit The first commercial IVD kit for screening of Pompe, MPS-I, Fabry, Gaucher, Niemann-Pick A/B and Krabbe disorders from a single DBS sample. A PIONEER IN EXPANDING
HIV-1 Viral Load Real Time (RG)
-1 Viral Load Real Time (RG) Real Time RT-PCR type 1 RNA quantification assay MSP Reg. pending Valdense 3616. 11700. Montevideo. Uruguay. phone (598) 2 336 83 01. Fax (598) 2 336 71 60. Info@atgen.com.uy