Clinical Applications

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Clinical Applications. Testing Classifications. Atomic Demonstrative Labs Irresistible illnesses Bacterial, viral qualities Hereditary testing Autosomal overwhelming/passive Heterozygous, Homozygous Wild-sort versus Mutant versus Transporter Pharmacogenomics or pharmacogenetics Subsection of hereditary testing

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Clinical Applications

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Testing Categories Molecular Diagnostic Labs Infectious illnesses Bacterial, viral qualities Genetic testing Autosomal prevailing/latent Heterozygous, Homozygous Wild-sort versus Mutant versus Transporter Pharmacogenomics or pharmacogenetics Subsection of hereditary testing Genes influencing drug digestion

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Infectious Diseases MRSA VRE Group A Strep Group B Strep TB HIV HCV CMV Flu Stop me when you're exhausted…

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Autosomal Dominant Pp Achondroplasia Antithrombin inadequacy Cleft Chin Familial hypercholesterolemia Facioscapulohumeral solid dystrophy Hereditary spherocytosis Huntington's Disease Hypertrophic cardiomyopathy Malignant hyperthermia Marfan Syndrome Neurofibromatosis Pfeiffer disorder Polycystic Kidney Disease

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Autosomal Recessive Cystic fibrosis Tay-Sachs sickness Chronic granulomatous malady Thalassemia Alpha 1-antitrypsin lack Haemochromatosis sorts 1-3 Wilson's illness Homocystinuria Galactosemia Glucose-6-phosphate dehydrogenase insufficiency Phenylketonuria Albinism Certain types of Spinal strong decay Xeroderma pigmentosum pp

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Pharmacogenetics Warfarin digestion Polymorphisms VKORC1 Vitamin K epoxide reductase complex 1 CYP2C9 Part of cytochrome P450 family FDA testing suggested

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Applications of PCR DNA? RNA? PCR? Pervasive PCR, qRT-PCR, RT-PCR Current utility: High level affectability/specificity Rapid, particular microbial identification Some growths Genetic illnesses Test improvement/look into constraining variables

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Example: MRSA Coagulase positive Staphylococcus sp. Case affirmed ICU by means of standard strategies 2 cases affirmed on different wards before How might PCR be valuable? Fast affirmation of MRSA on ICU pt Investigate hereditary associations Environmental testing for disease control

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Example: Bcl-2 Translocation of Bcl-2 quality 18 to 14 at Ig substantial chain locus Overproduction of Bcl protein Apoptosis is upset prompting to neoplasia Follicular lymphoma PCR application Use 2 distinct preliminaries to get t(14:18) Bcl-2 and JH (overwhelming chain)

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Example: Bcl-2

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Example: Bioterrorism Mysterious white powder PCR application Use groundworks/tests - R/O pernicious episode Check for B. anthracis destructiveness elements LF, PA, EF, and CAP (poly-D-glutamyl case through pXO2)

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Virtual Tour

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Test Menu HPV (high hazard) HIV stack HCV qual. CMV B. henselae M. tuberculosis CF screen Sex assurance HEMONC TCR Gamma revamp BCR/ABL qual./quant. BCL-2 translocation FVL (FV R506Q) PT G20210A

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Clean Room

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Clean (cont.)

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Clean (cont.)

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Pre-Room (cont.)

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Pre-Room (cont.)

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Pre-Room (cont.)

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Post-Room (cont.)

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Post-Room (cont.)

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Post-Room (cont.)

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Post-Room (cont.)

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Post-Room (cont.)

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Post-Room (cont.)

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Digene Hybrid Capture II Technology HPV (high hazard) Combination of advancements Classic sandwich Denature DNA Hybridize to RNA test Capture half and halves React w/labeled Abs Add Chemiluminescent substrate Detect flag

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Summary History and nuts and bolts of atomic science Various Molecular Techniques Clinical applications

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Multimedia Refresher

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Multimedia Refresher

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Graphics References

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Graphics References (cont.)

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Graphics References (cont.)

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Graphics References (cont.) VIII, Pearson/Prentice Hall Concepts of Genetics, Pearson/Prentice Hall