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Genetic Testing PowerPoint Presentation

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Description : Check out this medical presentation on Cowden Syndrome, which is titled "Genetic Testing", to know about the analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotype, mutations, phenotypes, or karyotypes for clinical purposes.

Tags : Cowden Syndrome, Genetic Testing, analysis, human DNA, RNA, chromosomes, proteins, metabolites, detect, heritable disease-related genotype, mutations, phenotypes, karyotypes

Published on : May 13, 2021 | Views : 2869 | Downloads : 5

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Genetic Testing Prasit Phowthongkum MD, FRCP (T) Department of Medicine Faculty of Medicine Chulalongkorn University
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Topics Definition Classification Availability Indication Technical information Turn around time Interpretation Cost-effectiveness Adverse effects
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Genetic testing Definition: the analysis of human DNA, RNA, chromosomes, proteins, and certain metabolites in order to detect heritable disease-related genotype, mutations, phenotypes, or karyotypes for clinical purposes Holtzman NA, Watson MS, eds. Promoting safe and effective genetic testing in the United States: final report of the Task Force on Genetic Testing. Baltimore: Johns Hopkins University Press, 1999
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Type of Genetic Tests Cytogenetic tests Biochemical genetic tests Molecular genetic tests
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Availability of Genetic Testing in Thailand Cytogenetic testing Routine karyotypes: all university hospitals and few private company in Bangkok High resolution karyotypes: Rajanukul hospital FISH: Duchenne Muscular Dystrophy Prader Willi Syndrome Angel Man Sydrome CATCH (22q11 syndrome) Subtelomeric FISH CGH
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Molecular testing For patients with inherited or at risk of inherited disorders and inherited predisposition conditions For non inherited conditions Clinical purposes Diagnostic infectious diseases, oncology Pharmacogenetics, Toxicogenomics Non clinical purposes Forensic: paternity testing, personal identification Nutrigenomics
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Availability of Genetic Testing in Thailand Hematology: Thalassemia/hemoglobinopathies G 6 PD deficiency Hemophilia Factor V Leiden Protein S Deficiency Methemoglobinemia
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Neurology: Duchenne Muscular Dystrophy/ Becker Muscular Dystrophy Spinal Muscular Atrophy Spinocerebellar Ataxia type 1, 2, 3, 6, 7 Fragile X syndrome Prader Willi Syndrome Angel Man Syndrome CADASIL MERFF, MELAS Wilson’s disease Huntington’s disease Parkinson disease APOE
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oncology: APC for familial adenomatous polyposis (FAP) MSH1, MSH2, PMS2 for Hereditary Nonpolyposis Coli Syndrome (HNPCC) BRCA1, BRCA2 for breast ovarian cancer syndrome MENIN, RET for MEN1, MEN2 PTEN for cowden syndrome, Bannayan Ruvalcalba Reiley Syndrome TP53 for Li Fraumeni Syndrome
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Connective tissue disorders: Marfan syndrome Dysmorpholgy: Achondroplasia Apert’s syndrome Etc. Metabolic diseases Congenital adrenal hyperplasia Congenital adrenal hypoplasia X-linked adrenoleucodystrophy Metachromatic Leucodystrophy Cystinosis
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EENT Leber’s Hereditary Optic Neuropathy Connexin (non syndromic deafness) Nephrology: Adult Polycystic Kidney Diseases Familial hypokalemic/hyperkalemic periodic paralysis Endocrinology MODY VHL Prop1, Pit1 LDL receptors Cardiology Brugada syndrome
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Availability of genetic testing www.genetests.com A public funded medical genetics information resource developed for physicians, other health care providers, and researchers, available at no cost to all interested persons 621 laboratories testing for 1,420 diseases 1,130 clinical 290 research only
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Indications Confirmatory diagnosis Presymptomatic diagnosis Predictive diagnosis Susceptibility testing Prenatal diagnosis Preimplantation diagnosis
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G banding
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The high resolution G banding
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The FISH image
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Karyotypes
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M-banding
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Bioinformatics A patient who diagnosed Acute intermittent porphyria biochemically Need: perform molecular diagnosis Knowledges: porphobilinogen deaminase Search gene information: www.ensembl.org
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PCR Amplify million folds of tiny amounts of DNA TemplatesDNA, primersDNA, dNTP, heat stable DNA polymerase Initial heat for denature Template annealing at lower temperature Heat again for extending strand And repeats for douling products Too sensitive!
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Modified PCR and non-PCR amplifications techniques inverse PCR quantitative PCR real time PCR nested PCR RT-PCR multiplex PCR ARMS PCR PCR mutagenesis long template PCR FRET assay, RCA, ERCA
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Linkage analysis If two genes occur close together, they said to be linked Crossing over during meiosis – recombination of two loci Frequency of recombination- a relative measure of distance Statistical measure of linkage- log of the odds (LOD score) +3 = 95% that two genes are linked
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Neurofibromatosis type I and II – chromosome 17, 22 CMT –chromosome 1q, 17p, and others Early onset and late onset-HD – chromosome 4 Duchene and becker muscular dystrophy –chromosome X Single point linkage analysis Multi point linkage analysis
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Polymorphic markers Blood group Protein electrophoresis RFLPs VNTR-microsatellite VNTR-minisatellite
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Gel electrophoresis
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Automated sequencing
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Specimen collection information
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Turn around time Low through put Medium through put High through put
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Interpretation Diagnostic, predictive, susceptibility test Negative mutation detection: Wrong diagnosis (genetic heterogeneity, phenocopies) Specimen labeling errors or laboratory errors Inadequate specimen quality or quantity, tissue contamination False negative test (large gene rearrangements ,description of gene(s) or specific (exons) tested) Wrong person was test (false paternity)
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Something detected Pathogenic mutations Polymorphisms Mutations of unknown significance
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Cost-effectiveness What is effective? Who is the payer? Prevalence esp. population screening Severity of disorders Availability of therapeutic or preventive measures
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Adverse effects Cost and coverage Emotional and psychological effects Genetic discrimination: jobs, insurance, social Confidential Misinterpretations: wrong negative confident, overemphasized
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