Download Free Medical Genetic Testing PowerPoint Presentation

Genetic Testing PowerPoint Presentation

DOWNLOAD MEDICAL POWERPOINT PRESENTATION

About This Presentation

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 : 2112 | Downloads : 5

Shareable Url :

Embed Code :

Comment

Transcript

Slide 1-

Genetic Testing Prasit Phowthongkum MD, FRCP (T) Department of Medicine Faculty of Medicine Chulalongkorn University
Slide 2-

Topics Definition Classification Availability Indication Technical information Turn around time Interpretation Cost-effectiveness Adverse effects
Slide 3-

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
Slide 4-

Type of Genetic Tests Cytogenetic tests Biochemical genetic tests Molecular genetic tests
Slide 5-

ppt slide no 5 content not found
Slide 6-

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
Slide 7-

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
Slide 8-

Availability of Genetic Testing in Thailand Hematology: Thalassemia/hemoglobinopathies G 6 PD deficiency Hemophilia Factor V Leiden Protein S Deficiency Methemoglobinemia
Slide 9-

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
Slide 10-

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
Slide 11-

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
Slide 12-

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
Slide 13-

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
Slide 14-

ppt slide no 14 content not found
Slide 15-

ppt slide no 15 content not found
Slide 16-

Indications Confirmatory diagnosis Presymptomatic diagnosis Predictive diagnosis Susceptibility testing Prenatal diagnosis Preimplantation diagnosis
Slide 17-

ppt slide no 17 content not found
Slide 18-

ppt slide no 18 content not found
Slide 19-

ppt slide no 19 content not found
Slide 20-

ppt slide no 20 content not found
Slide 21-

ppt slide no 21 content not found
Slide 22-

ppt slide no 22 content not found
Slide 23-

ppt slide no 23 content not found
Slide 24-

G banding
Slide 25-

The high resolution G banding
Slide 26-

The FISH image
Slide 27-

Karyotypes
Slide 28-

M-banding
Slide 29-

ppt slide no 29 content not found
Slide 30-

Bioinformatics A patient who diagnosed Acute intermittent porphyria biochemically Need: perform molecular diagnosis Knowledges: porphobilinogen deaminase Search gene information: www.ensembl.org
Slide 31-

ppt slide no 31 content not found
Slide 32-

ppt slide no 32 content not found
Slide 33-

ppt slide no 33 content not found
Slide 34-

ppt slide no 34 content not found
Slide 35-

ppt slide no 35 content not found
Slide 36-

ppt slide no 36 content not found
Slide 37-

ppt slide no 37 content not found
Slide 38-

ppt slide no 38 content not found
Slide 39-

ppt slide no 39 content not found
Slide 40-

ppt slide no 40 content not found
Slide 41-

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!
Slide 42-

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
Slide 43-

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
Slide 44-

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
Slide 45-

Polymorphic markers Blood group Protein electrophoresis RFLPs VNTR-microsatellite VNTR-minisatellite
Slide 46-

ppt slide no 46 content not found
Slide 47-

ppt slide no 47 content not found
Slide 48-

ppt slide no 48 content not found
Slide 49-

ppt slide no 49 content not found
Slide 50-

ppt slide no 50 content not found
Slide 51-

ppt slide no 51 content not found
Slide 52-

ppt slide no 52 content not found
Slide 53-

ppt slide no 53 content not found
Slide 54-

Gel electrophoresis
Slide 55-

Automated sequencing
Slide 56-

ppt slide no 56 content not found
Slide 57-

ppt slide no 57 content not found
Slide 58-

Specimen collection information
Slide 59-

Turn around time Low through put Medium through put High through put
Slide 60-

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)
Slide 61-

Something detected Pathogenic mutations Polymorphisms Mutations of unknown significance
Slide 62-

Cost-effectiveness What is effective? Who is the payer? Prevalence esp. population screening Severity of disorders Availability of therapeutic or preventive measures
Slide 63-

Adverse effects Cost and coverage Emotional and psychological effects Genetic discrimination: jobs, insurance, social Confidential Misinterpretations: wrong negative confident, overemphasized
Slide 64-

ppt slide no 64 content not found