Clinical evaluation of microarray data
|
|
- Jonathan Lesley Cross
- 6 years ago
- Views:
Transcription
1 Clinical evaluation of microarray data David Amor 19 th June 2011
2 Single base change Microarrays 3-4Mb
3 What is a microarray? Up to 10 6 bits of Information!! Highly multiplexed FISH hybridisations.
4 Microarray Supercedes: FISH Karyotype (detection rate of 3%) The investigation of choice for: Developmental delay/ intellectual disability Autism Congenital abnormalities Pathogenic copy number changes detected in approximately 7000 referrals = 15%
5 Normal microarray profile A = A/T B = G/C BB AB AA Log(2) ratio: Log(2) of 1=0
6 Deletion
7 Duplication
8 Long continuous stretches of homozygosity Risk of recessive disease and/or UPD Only A and B Alleles ie no AB hets
9 CNVs are common We all have many Key task is to sort detected CNVs into four main categories: Pathogenic Uncertain significance Unknown significance Benign
10 Pathogenic Copy Number Change This is a well established pathogenic copy number change Already described and verified in the literature These include common microdeletion and microduplication syndromes, e.g. Prader-Willi syndrome Angelman syndrome 22q11 microdeletion syndrome (VCFS) Cri-du-chat syndrome
11 Copy Number Change of Uncertain Clinical Significance Known association with phenotypic abnormality But Also be found in phenotypically normal parents/healthy controls. Therefore likely to be a contributing factor but not in itself sufficient to cause the abnormality 16p11.2 deletion IQ low normal/ mild ID Language difficulties Overweight 16p11.2 duplication Found in normal individuals Increased risk of in dev delay and psychiatric disorders 15q13.3 deletion Found in normal individuals Increased risk of ID, seizures, autism, schizophrenia
12 16p11.2 Microdeletion syndrome Shinawi M et al. J Med Genet 2010;47:
13 Novel Copy Number Change of Unknown Significance This is a change which has not been described and verified in the literature, but which contains genes, therefore is potentially relevant. Information to be considered: Size of CNV Inherited vs. de novo If inherited, does it track with phenotype in family? Gene content Information from databases
14 Benign Copy Number Change These are changes found in phenotypically normal individuals (we all have these) Often located in highly variable regions often containing segmental duplications or repetitive sequences. No known clinical significance Reported as NORMAL.
15 Workflow used in pathogenicity determination: BC as an example
16 Probe coverage Known pathogenic regions VCGS data (Red = deletions Blue = duplications) DECIPHER data Haploinsufficiency predictor Gene content CHOP database (2000 normals)
17 Eur J Med Genet : Same chromosome region as VCFS/DiGeorge, includes TBX gene Most have mild learning difficulties Some have heart defect/clefting, urogenital abnormalities Some individuals essentially normal Often inherited from a parent Uncertain clinical significance
18 The chromosome 8 deletion
19 Browser shot
20 Interpretation De novo deletion Small number of genes 1 similar case in DECIPHER: SZ, hypotonia No published cases FBXO25 gene widely expressed in brain (animal studies) More information likely to become available in the future, but little prognostication possible for now What is the effect of having two abnormalities?
21 Clinical challenges for inherited variants of uncertain significance How robust are the data? What is normal? two hit hypothesis Entering field of complex genetics, but only seeing a fraction of contributing genetic factors What is the role of cascade testing Is prenatal diagnosis appropriate?
22
23
24 FOXG1 duplication in father and son with normal intellect Possible explanations Incomplete penetrance Phenotype due to other genes
25
RACP Congress 2017 Genetics of Intellectual Disability and Autism: Past Present and Future 9 th May 2017
RACP Congress 2017 Genetics of Intellectual Disability and Autism: Past Present and Future 9 th May 2017 Why causation? Explanation for family Prognosis Recurrence risk and reproductive options Guide medical
More informationChallenges of CGH array testing in children with developmental delay. Dr Sally Davies 17 th September 2014
Challenges of CGH array testing in children with developmental delay Dr Sally Davies 17 th September 2014 CGH array What is CGH array? Understanding the test Benefits Results to expect Consent issues Ethical
More informationMultiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016
Multiple Copy Number Variations in a Patient with Developmental Delay ASCLS- March 31, 2016 Marwan Tayeh, PhD, FACMG Director, MMGL Molecular Genetics Assistant Professor of Pediatrics Department of Pediatrics
More informationCHROMOSOMAL MICROARRAY (CGH+SNP)
Chromosome imbalances are a significant cause of developmental delay, mental retardation, autism spectrum disorders, dysmorphic features and/or birth defects. The imbalance of genetic material may be due
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: LOSS,
More informationSNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY.
SAMPLE REPORT SNP Array NOTE: THIS IS A SAMPLE REPORT AND MAY NOT REFLECT ACTUAL PATIENT DATA. FORMAT AND/OR CONTENT MAY BE UPDATED PERIODICALLY. RESULTS SNP Array Copy Number Variations Result: GAIN,
More informationUpdating penetrance estimates for syndromes with variable phenotypic manifestation. Adele Corrigan June 27th
Updating penetrance estimates for syndromes with variable phenotypic manifestation Adele Corrigan June 27th Background Array CGH has led to increased identification of copy number variants (CNVs) Our understanding
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 informationApplications of Chromosomal Microarray Analysis (CMA) in pre- and postnatal Diagnostic: advantages, limitations and concerns
Applications of Chromosomal Microarray Analysis (CMA) in pre- and postnatal Diagnostic: advantages, limitations and concerns جواد کریمزاد حق PhD of Medical Genetics آزمايشگاه پاتوبيولوژي و ژنتيك پارسه
More informationClinical Genomics. Ina E. Amarillo, PhD FACMGG
Clinical Genomics Ina E. Amarillo, PhD FACMGG Associate Medical Director, Cytogenetics Lab (CaTG), Lab and Genomic Medicine Assistant Professor, Pathology and Immunology Outline Clinical Genomics Testing
More informationGenetic Testing 101: Interpreting the Chromosomes
Genetic Testing 101: Interpreting the Chromosomes Kristin Lindstrom, MD Division of Genetics and Metabolism Phoenix Children s Hospital AzAAP Pediatrics in the Red Rocks I have no disclosures for this
More informationPractical challenges that copy number variation and whole genome sequencing create for genetic diagnostic labs
Practical challenges that copy number variation and whole genome sequencing create for genetic diagnostic labs Joris Vermeesch, Center for Human Genetics K.U.Leuven, Belgium ESHG June 11, 2010 When and
More informationDr Dipti Deshmukh. Mayu Uemura. 11th September Introduction
Genetic Findings in Children with Unexplained Developmental Delay Dr Dipti Deshmukh Neurodevelopmental Consultant, St. George's Hospital, London Mayu Uemura 4th year MBBS4, St George s University of London
More informationMost severely affected will be the probe for exon 15. Please keep an eye on the D-fragments (especially the 96 nt fragment).
SALSA MLPA probemix P343-C3 Autism-1 Lot C3-1016. As compared to version C2 (lot C2-0312) five reference probes have been replaced, one reference probe added and several lengths have been adjusted. Warning:
More informationGenetic Testing for Single-Gene and Multifactorial Conditions
Clinical Appropriateness Guidelines Genetic Testing for Single-Gene and Multifactorial Conditions EFFECTIVE DECEMBER 1, 2017 Appropriate.Safe.Affordable 2017 AIM Specialty Health 2069-1217 Table of Contents
More informationGenetic Testing for the Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Genetic Testing for the Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies Policy Number: 2.04.59 Last Review: 5/2018 Origination: 5/2015 Next Review: 5/2019
More informationChromosome Microarray Analysis (CMA)
Chromosome Microarray Analysis (CMA) Ina E. Amarillo, PhD FACMG Cytogenomics Lab (Associate Medical Director) Pathology (Assistant Professor) OUTLINE Clinical Indications for Cytogenomics Testing Cytogenomics
More informationFaravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University
Faravareh Khordadpoor (PhD in molecular genetics) 1- Tehran Medical Genetics Laboratory 2- Science and research branch, Islamic Azad University 1395 21 مشاوره ژنتیک و نقش آن در پیش گیری از معلولیت ها 20
More informationApproach to Mental Retardation and Developmental Delay. SR Ghaffari MSc MD PhD
Approach to Mental Retardation and Developmental Delay SR Ghaffari MSc MD PhD Introduction Objectives Definition of MR and DD Classification Epidemiology (prevalence, recurrence risk, ) Etiology Importance
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 informationCURRENT 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
More informationClinical Interpretation of Cancer Genomes
IGENZ Ltd, Auckland, New Zealand Clinical Interpretation of Cancer Genomes Dr Amanda Dixon-McIver www.igenz.co.nz 1992 Slovenia and Croatia gain independence USA and Russia declare the Cold War over Steffi
More informationGenetics update and implications for (General) Practice
Genetics update and implications for (General) Practice May 12 th 2018 Women s Health Symposium Clearwater Estate Dr Kate Gibson MB BCh, MRCP, FRACP Topics NZ Clinical Genetics delivery New Technologies
More informationGenetics and Genomics: Applications to Developmental Disability
Tuesday, 12:30 2:00, B1 Objective: Genetics and Genomics: Applications to Developmental Disability Helga Toriello 616-234-2712 toriello@msu.edu Identify advances in clinical assessment and management of
More informationCase 1B. 46,XY,-14,+t(14;21)
Case 1B 46,XY,-14,+t(14;21) G-banded Chromosome telomere centromere G-dark bands AT-rich few genes G-pale bands GC-rich many genes telomere ideograms ideograms Conventional (light microscopy) p = short
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 informationIncreasing the Sensitivity of Genomic Assays Permits a Higher Resolution Study of the Human Genome. Our Current Knowledge of Genetics and Genomics
Our Current Knowledge of Genetics and Genomics Unlocking the Diagnostic Potential of Genomic Medicine The Beaumont DNA Array Experience Mark Micale, Ph.D., F.A.C.M.G. Medical Director, Clinical Cytogenomics
More information22q11.2 DELETION SYNDROME. Anna Mª Cueto González Clinical Geneticist Programa de Medicina Molecular y Genética Hospital Vall d Hebrón (Barcelona)
22q11.2 DELETION SYNDROME Anna Mª Cueto González Clinical Geneticist Programa de Medicina Molecular y Genética Hospital Vall d Hebrón (Barcelona) Genomic disorders GENOMICS DISORDERS refers to those diseases
More informationSection: Medicine Effective Date: January15, 2016 Subsection: Pathology/Laboratory Original Policy Date: December 7, 2011 Subject:
Section: Medicine Effective Date: January15, 2016 Last Review Status/Date: December 2015 Page: 1 of 22 Microarray Analysis and Next-Generation Autism Spectrum Disorder and/or Congenital Description Chromosomal
More informationImplementation of the DDD/ClinGen OGT (CytoSure v3) Microarray
Implementation of the DDD/ClinGen OGT (CytoSure v3) Microarray OGT UGM Birmingham 08/09/2016 Dom McMullan Birmingham Women's NHS Trust WM chromosomal microarray (CMA) testing Population of ~6 million (10%)
More informationGenetics and Genetic Testing for Autism:
STAR Training 2/22/2018 Genetics and Genetic Testing for Autism: Demystifying the Journey to Find a Cause Alyssa (Ah leesa) Blesson, MGC, CGC Certified Genetic Counselor Center for Autism and Related Disorders
More informationWhat lies beneath: challenges in reporting SNP array results. Jonathan Waters
What lies beneath: challenges in reporting SNP array results Jonathan Waters Challenges in variant interpretation Austin Court, Birmingham Monday 4 th July 2016 What lies beneath: challenges in reporting
More informationProtocol. Genetic Testing for Developmental Delay and Autism Spectrum Disorder
Genetic Testing for Developmental Delay and Autism Spectrum (20459, 20483, 20481) Medical Benefit Effective Date: 01/01/18 Next Review Date: 09/18 Preauthorization Yes Review Dates: 09/10, 09/11, 03/12,
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 informationInformation for you about Panorama s Microdeletion Screening BROUGHT TO YOU BY:
Information for you about Panorama s Microdeletion Screening BROUGHT TO YOU BY: Panorama TM is a Non-Invasive Prenatal Test (NIPT) that screens for Down syndrome and other genetic abnormalities caused
More informationAssociation for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology
Association for Molecular Pathology Promoting Clinical Practice, Basic Research, and Education in Molecular Pathology 9650 Rockville Pike, Bethesda, Maryland 20814 Tel: 301-634-7939 Fax: 301-634-7990 Email:
More informationNature Genetics: doi: /ng Supplementary Figure 1. PCA for ancestry in SNV data.
Supplementary Figure 1 PCA for ancestry in SNV data. (a) EIGENSTRAT principal-component analysis (PCA) of SNV genotype data on all samples. (b) PCA of only proband SNV genotype data. (c) PCA of SNV genotype
More informationHuman Genetic Variation Copy Number Variation
The Evolution of Laboratory Prenatal Diagnosis Lawrence D. Platt, MD Professor of Obstetrics and Gynecology David Geffen School of Medicine at UCLA Center for Fetal Medicine & Women s Ultrasound Los Angeles,
More informationGenetic Counselling in relation to genetic testing
Genetic Counselling in relation to genetic testing Dr Julie Vogt Consultant Geneticist West Midlands Regional Genetics Service September 2016 Disclosures for Research Support/P.I. Employee Consultant Major
More informationChromosomal Mutations
Notes 2/17 Chromosomal Mutations A chromosome mutation is an unpredictable change that occurs in a chromosome. These changes are most often brought on by problems that occur during meiosis or by mutagens
More informationCongenital Heart Disease How much of it is genetic?
Congenital Heart Disease How much of it is genetic? Stephen Robertson Curekids Professor of Paediatric Genetics Dunedin School of Medicine University of Otago Congenital Heart Disease The most common survivable
More informationPedigree Analysis. Genetic disorders. Dominant inheritance. Recessive inheritance. Autosomal vs. sex-linked traits. X-linked recessive inheritance
Genetic disorders 4.2 Errors During Meiosis 5.3 Following Patterns of Human nheritance Pedigree Analysis 2005 Lee Bardwell Autosomal vs. sex-linked traits Autosomal traits are caused by genes on autosomes
More informationLab Activity 36. Principles of Heredity. Portland Community College BI 233
Lab Activity 36 Principles of Heredity Portland Community College BI 233 Terminology of Chromosomes Homologous chromosomes: A pair, of which you get one from mom, and one from dad. Example: the pair of
More informationHow many disease-causing variants in a normal person? Matthew Hurles
How many disease-causing variants in a normal person? Matthew Hurles Summary What is in a genome? What is normal? Depends on age What is a disease-causing variant? Different classes of variation Final
More informationMicroarray Comparative Genomic Hybridisation (array CGH)
Saint Mary s Hospital Manchester Centre for Genomic Medicine Information for Patients Microarray Comparative Genomic Hybridisation (array CGH) An array CGH test looks for small changes in a person s chromosomes,
More informationA Practical Update on Genetic Testing, Diagnosis, and Next Generation Treatment Approaches for Persons with Developmental Brain Disorders
A Practical Update on Genetic Testing, Diagnosis, and Next Generation Treatment Approaches for Persons with Developmental Brain Disorders Brenda Finucane, MS, LGC Geisinger Autism & Developmental Medicine
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 informationSEAMLESS CGH DIAGNOSTIC TESTING
SEAMLESS CGH DIAGNOSTIC TESTING GENETISURE DX POSTNATAL ASSAY Informed decisions start with a complete microarray platform for postnatal analysis For In Vitro Diagnostic Use INTENDED USE: GenetiSure Dx
More informationCopy Number Variants of Uncertain Significance in Prenatal diagnosis Are the Goalposts Moving? Lisa Burvill-Holmes Bristol Genetics Laboratory
Copy Number Variants of Uncertain Significance in Prenatal diagnosis Are the Goalposts Moving? Lisa Burvill-Holmes Bristol Genetics Laboratory http://www.nbt.nhs.uk/genetics Microarray CGH in Prenatal
More informationGenetics: More Than 23 and Me
Genetics: More Than 23 and Me Stephanie J. Offord, FNP-BC, AGN-BC, MSN Gina Lewis, CPNP-PC, MSN Suzanne Ducett, BSN, RN Interactive questions in presentation. Text NPGENETICS123 to 22333 once to join DISCLOSURE
More informationExploding Genetic Knowledge in Developmental Disabilities. Disclosures. The Genetic Principle
Exploding Genetic Knowledge in Developmental Disabilities How to acquire the data and how to make use of it Elliott H. Sherr MD PhD Professor of Neurology & Pediatrics UCSF Disclosures InVitae: clinical
More informationNational Medical Policy
National Medical Policy Subject: Policy Number: Single Nucleotide Polymorphism (SNP) Chromosomal Microarray Analysis for Prenatal Testing and Intellectual Disability, Developmental Delay, and Multiple
More informationGlobal variation in copy number in the human genome
Global variation in copy number in the human genome Redon et. al. Nature 444:444-454 (2006) 12.03.2007 Tarmo Puurand Study 270 individuals (HapMap collection) Affymetrix 500K Whole Genome TilePath (WGTP)
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 informationIntroduction to the Genetics of Complex Disease
Introduction to the Genetics of Complex Disease Jeremiah M. Scharf, MD, PhD Departments of Neurology, Psychiatry and Center for Human Genetic Research Massachusetts General Hospital Breakthroughs in Genome
More informationGenetics and Developmental Disabilities. Stuart K. Shapira, MD, PhD. Pediatric Genetics Team
Genetics and Developmental Disabilities Stuart K. Shapira, MD, PhD Pediatric Genetics Team National Center on Birth Defects and Developmental Disabilities Centers for Disease Control and Prevention The
More informationCNV Detection and Interpretation in Genomic Data
CNV Detection and Interpretation in Genomic Data Benjamin W. Darbro, M.D., Ph.D. Assistant Professor of Pediatrics Director of the Shivanand R. Patil Cytogenetics and Molecular Laboratory Overview What
More informationMULTIPLE CHOICE QUESTIONS
SHORT ANSWER QUESTIONS-Please type your awesome answers on a separate sheet of paper. 1. What is an X-linked inheritance pattern? Use a specific example to explain the role of the father and mother in
More informationJULY 21, Genetics 101: SCN1A. Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology
JULY 21, 2018 Genetics 101: SCN1A Katie Angione, MS CGC Certified Genetic Counselor CHCO Neurology Disclosures: I have no financial interests or relationships to disclose. Objectives 1. Review genetic
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: Manchester RGC Approved: September 2013
More informationDetection of aneuploidy in a single cell using the Ion ReproSeq PGS View Kit
APPLICATION NOTE Ion PGM System Detection of aneuploidy in a single cell using the Ion ReproSeq PGS View Kit Key findings The Ion PGM System, in concert with the Ion ReproSeq PGS View Kit and Ion Reporter
More informationGenetic Considerations in Young Children with Developmental Delays
Early Intervention Training Program at the University of Illinois at Urbana-Champaign presents Genetic Considerations in Young Children with Developmental Delays The webinar will begin at (1:30 PM CST).
More informationMLPA SAMPLES USER GUIDE
MLPA SAMPLES USER GUIDE MLPA microdeletion studies Requirements: 1-2 mls (minimum) of peripheral blood in a lithium heparin tube (green or orange top) AND 1-2 mls of peripheral blood in a EDTA tube (purple
More information5/2/18. After this class students should be able to: Stephanie Moon, Ph.D. - GWAS. How do we distinguish Mendelian from non-mendelian traits?
corebio II - genetics: WED 25 April 2018. 2018 Stephanie Moon, Ph.D. - GWAS After this class students should be able to: 1. Compare and contrast methods used to discover the genetic basis of traits or
More informationWelcome to the Genetic Code: An Overview of Basic Genetics. October 24, :00pm 3:00pm
Welcome to the Genetic Code: An Overview of Basic Genetics October 24, 2016 12:00pm 3:00pm Course Schedule 12:00 pm 2:00 pm Principles of Mendelian Genetics Introduction to Genetics of Complex Disease
More informationMicrodeletion and Prenatal FISH Probes
Microdeletion and Prenatal FISH Probes Rapid Prenatal Screening The Cytocell prenatal FISH assays are designed for the rapid and accurate detection of the most common foetal chromosomal disorders: Down
More informationTHE PENNSYLVANIA STATE UNIVERSITY SCHREYER HONORS COLLEGE DEPARTMENT OF BIOCHEMISTRY AND MOLECULAR BIOLOGY
THE PENNSYLVANIA STATE UNIVERSITY SCHREYER HONORS COLLEGE DEPARTMENT OF BIOCHEMISTRY AND MOLECULAR BIOLOGY GENOME-WIDE MICROARRAY ANALYSIS IN A CASE-CONTROL STUDY REVEALS EVELATED LEVEL OF GLOBAL COPY
More informationMOLECULAR DIAGNOSIS for X-LINKED INTELLECTUAL DISABILITY
MOLECULAR DIAGNOSIS for X-LINKED INTELLECTUAL DISABILITY Intellectual disability (ID) or mental retardation is characterized by significant limitations in cognitive abilities and social/behavioral adaptive
More informationNature Genetics: doi: /ng Supplementary Figure 1
Supplementary Figure 1 Illustrative example of ptdt using height The expected value of a child s polygenic risk score (PRS) for a trait is the average of maternal and paternal PRS values. For example,
More informationInvestigating rare diseases with Agilent NGS solutions
Investigating rare diseases with Agilent NGS solutions Chitra Kotwaliwale, Ph.D. 1 Rare diseases affect 350 million people worldwide 7,000 rare diseases 80% are genetic 60 million affected in the US, Europe
More informationPOLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT VARIATIONS DISCLAIMER CODING INFORMATION REFERENCES POLICY HISTORY
Original Issue Date (Created): April 26, 2011 Most Recent Review Date (Revised): January 28, 2014 Effective Date: June 1, 2014 POLICY PRODUCT VARIATIONS DESCRIPTION/BACKGROUND RATIONALE DEFINITIONS BENEFIT
More information17q12 Review. What s in a name? Spring Parental Testing: What, Why, & How. Conference Updates
17q12 REVIEW Issue 5 17q12 Review Spring 2017 IN THIS ISSUE What s in a name? When compared to an ear infection or the flu or heart disease, 17q12 microduplication or microdeletion syndrome sounds like
More informationAbstract. Optimization strategy of Copy Number Variant calling using Multiplicom solutions APPLICATION NOTE. Introduction
Optimization strategy of Copy Number Variant calling using Multiplicom solutions Michael Vyverman, PhD; Laura Standaert, PhD and Wouter Bossuyt, PhD Abstract Copy number variations (CNVs) represent a significant
More informationStructural Chromosome Aberrations
Structural Chromosome Aberrations 2 Structural chromosome aberrations or chromosome mutations represent apart from aneuploidies the most frequent pathologic findings in applied chromosome diagnostics.
More informationGenetic Testing for Single-Gene and Multifactorial Conditions
Clinical Appropriateness Guidelines Genetic Testing for Single-Gene and Multifactorial Conditions EFFECTIVE MARCH 31, 2019 Appropriate.Safe.Affordable 2019 AIM Specialty Health 2069-0319 Table of Contents
More informationAmerican Psychiatric Nurses Association
Francis J. McMahon International Society of Psychiatric Genetics Johns Hopkins University School of Medicine Dept. of Psychiatry Human Genetics Branch, National Institute of Mental Health* * views expressed
More informationMerging single gene-level CNV with sequence variant interpretation following the ACMGG/AMP sequence variant guidelines
Merging single gene-level CNV with sequence variant interpretation following the ACMGG/AMP sequence variant guidelines Tracy Brandt, Ph.D., FACMG Disclosure I am an employee of GeneDx, Inc., a wholly-owned
More informationMolecular and Clinical Characterization of Syndromes Associated With Intellectual Disability
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 880 Molecular and Clinical Characterization of Syndromes Associated With Intellectual Disability CHRISTIAN WENTZEL
More informationSyndromic X Linked Mental Retardation
Syndromic X Linked Mental Retardation Introduction : Dr. Yousef.A. Assaleh Dept. of Pediatric - faculty of medicine Zawia University Mental retardation is defined as incomplete or insufficient general
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 informationCorporate Medical Policy
Corporate Medical Policy File Name: Origination: Last CAP Review: Next CAP Review: Last Review: genetic_testing_for_rett_syndrome 7/2012 3/2017 3/2018 5/2017 Description of Procedure or Service Rett syndrome
More informationPrenatal Diagnosis: Are There Microarrays in Your Future?
Financial Disclosure UCSF Antepartum Intrapartum Management Course June 8 I have no financial relationship with any aspect of private industry Prenatal Diagnosis: Are There Microarrays in Your Future?
More informationMP Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies
Medical Policy Genetic Testing for Developmental Delay/Intellectual Disability, Autism Spectrum Disorder, and Congenital BCBSA Ref. Policy: 2.04.59 Last Review: 10/18/2018 Effective Date: 10/18/2018 Section:
More informationBlood 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
More informationAnalysis with SureCall 2.1
Analysis with SureCall 2.1 Danielle Fletcher Field Application Scientist July 2014 1 Stages of NGS Analysis Primary analysis, base calling Control Software FASTQ file reads + quality 2 Stages of NGS Analysis
More informationSALSA MLPA probemix P372-B1 Microdeletion Syndromes 6 Lot B1-1016, B
SALSA MLPA probemix P372-B1 Microdeletion Syndromes 6 Lot B1-1016, B1-0613. The purpose of the P372 probemix is to further investigate results found with the P245 Microdeletion Syndromes-1A probemix. The
More informationPROVIDER POLICIES & PROCEDURES
PROVIDER POLICIES & PROCEDURES COMPARATIVE GENOMIC HYBRIDIZATION (CGH) MICROARRAY TESTING FOR DEVELOPMENTAL DELAY, AUTISM SPECTRUM DISORDER AND INTELLECTUAL DISABILITY The purpose of this policy is to
More informationApplication of Array-based Comparative Genome Hybridization in Children with Developmental Delay or Mental Retardation
Pediatr Neonatol 2008;49(6):213 217 REVIEW ARTICLE Application of Array-based Comparative Genome Hybridization in Children with Developmental Delay or Mental Retardation Jao-Shwann Liang 1,2 *, Keiko Shimojima
More informationThe Chromosomal Basis Of Inheritance
The Chromosomal Basis Of Inheritance Chapter 15 Objectives Explain the chromosomal theory of inheritance and its discovery. Explain why sex-linked diseases are more common in human males than females.
More informationreview Genetics IN Medicine 13
January 2008 Vol. 10 No. 1 review Pre- and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives Sandra Darilek, MS, Patricia Ward, MS, Amber Pursley, MS,
More informationMedical Policy. MP Invasive Prenatal (Fetal) Diagnostic Testing
Medical Policy MP 2.04.116 BCBSA Ref. Policy: 2.04.116 Last Review: 04/30/2018 Effective Date: 04/30/2018 Section: Medicine Related Policies 2.04.59 Genetic Testing for Developmental Delay/Intellectual
More informationI. Multiple Alleles. Chapter 5. Summary points. What pattern of inheritance is demonstrated in the following cross?
Chapter 5 Extensions and Modifications of Basic Principles I. Multiple Alleles The ABO blood group has multiple alleles codominance and complete dominance. In codominance, both alleles are expressed simultaneously.
More information"Current Scientists Perspectives of Autism
"Current Scientists Perspectives of Autism Medical Genetics Children s Hospital of Pittsburgh June 3, 2008 Nancy Minshew, MD Director, NIH Autism Center of Excellence University of Pittsburgh Key Features
More informationInformation leaflet for patients and families. Uniparental Disomy (UPD)
Information leaflet for patients and families Uniparental Disomy (UPD) What are genes and chromosomes? Our genes are the unique set of instructions inside every cell of our body which make each of us an
More informationNext Generation Children. Association for Clinical Genetic Science meeting 27th June 2017 Alba Sanchis Juan,
Next Generation Children Association for Clinical Genetic Science meeting 27th June 2017 Alba Sanchis Juan, as2635@cam.ac.uk NGC project Genetic testing for patients from NICU and PICU with a suspected
More informationCentoXome FUTURE'S KNOWLEDGE APPLIED TODAY
CentoXome FUTURE'S KNOWLEDGE APPLIED TODAY More genetic information requires cutting-edge interpretation techniques Whole Exome Sequencing For certain patients the combination of symptoms does not allow
More informationMutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations?
Mutations Quick Questions and Notes (#1) QQ#1: What do you know about mutations? mutation basics Definition: a change in the genetic material of a cell Note: not all mutations are bad Can occur in 2 types
More informationWhat can genetic studies tell us about ADHD? Dr Joanna Martin, Cardiff University
What can genetic studies tell us about ADHD? Dr Joanna Martin, Cardiff University Outline of talk What do we know about causes of ADHD? Traditional family studies Modern molecular genetic studies How can
More informationUnit 5 Review Name: Period:
Unit 5 Review Name: Period: 1 4 5 6 7 & give an example of the following. Be able to apply their meanings: Homozygous Heterozygous Dominant Recessive Genotype Phenotype Haploid Diploid Sex chromosomes
More informationNovember 9, Johns Hopkins School of Medicine, Baltimore, MD,
Fast detection of de-novo copy number variants from case-parent SNP arrays identifies a deletion on chromosome 7p14.1 associated with non-syndromic isolated cleft lip/palate Samuel G. Younkin 1, Robert
More information