浙江大学：Molecular Diagnosis II：Practical

Molecular Diagnosis ll: Practical 张咸宁 zhangxianning@zju.edu.cn Tel:13105819271;88208367 Office: A705, Research Building 2012/09

Molecular Diagnosis II: Practical 张咸宁 zhangxianning@zju.edu.cn Tel：13105819271; 88208367 Office: A705, Research Building 2012/09

AREAS OF APPLICATION OF MOLECULAR DIAGNOSTICS Infectious disease Neoplastic Disease Genetic Disease Identity Testing HLA Typing Pharmacogenetics

Infectious Disease Neoplastic Disease Genetic Disease Identity Testing HLA Typing Pharmacogenetics AREAS OF APPLICATION OF MOLECULAR DIAGNOSTICS

APPLICATIONS OF MOLECULAR GENETIC TESTING Clinical diagnosis/confirmation Carrier screening ■ Prenatal diagnosis Presymptomatic/predisposition diagnosis

APPLICATIONS OF MOLECULAR GENETIC TESTING ◼ Clinical diagnosis/confirmation ◼ Carrier screening ◼ Prenatal diagnosis ◼ Presymptomatic/predisposition diagnosis

Resources GeneTestswww.genetests.org American College of Medical Genetics www.acmg.net National Society of Genetic Counselors www.nsgc.org Omim:http://www.ncbi.nlm.nih.gov/omim The journals: Molecular Diagnosis, Diagnostic Molecular Pathology, journal of molecular Diagnosis, Genetic Testing and molecular Biomarkers, Prenatal Diagnosis

Resources • Gene Tests: www.genetests.org • American College of Medical Genetics: www.acmg.net • National Society of Genetic Counselors: www.nsgc.org • OMIM: http://www.ncbi.nlm.nih.gov/omim • The journals: Molecular Diagnosis, Diagnostic Molecular Pathology, Journal of Molecular Diagnosis, Genetic Testing and Molecular Biomarkers, Prenatal Diagnosis, …

Molecular genetic testing United states Testing used in patient care must be done in clinical" laboratories. not research laboratories Clinical laboratories have to meet standards set by federal law (Clia) Non-US laboratories are used when testing is not available in the us DETests

Molecular genetic testing: United States • Testing used in patient care must be done in “clinical” laboratories, not research laboratories • Clinical laboratories have to meet standards set by federal law (“CLIA”) • Non-US laboratories are used when testing is not available in the US

GeneReviews Content Summary Diagnosis Clinical Description Differential Diagnosis Management Genetic Counseling Molecular genetics Resources References DETests

GeneReviews Content Summary Diagnosis Clinical Description Differential Diagnosis Management Genetic Counseling Molecular Genetics Resources References

Genereviews Summary One paragraph on Disease characteristics Diagnosis/testing Management Genetic counseling DETests

GeneReviews Summary Disease characteristics Diagnosis/testing Management Genetic counseling One paragraph on:

A‖ GeneReview Disable Glossary Link Beta-Thalassemia Print this geneReviel [Cooley's Anemia, Mediterranean Anemia. Includes: Thalassemia Major( Beta- Thalassemia Major), Thalassemia Intermedia, Thalassemia Minor(Beta-Thalassemia Minor, Heterozygous Beta-Thalassemia) In this geneReview Antonio Cao, MD Summary Institute of Neurogenetics and Neuropharmacology Consiglio Nazionale delle Ricerche Clinical Description Cagliari, Italy Differential Diagnosis acao@mcweb unica. it Renzo Galanello. MD Genetic Counseling Department of Biomedical Sciences and Biotechnologies Molecular genetics Ospedale Regionale Microcitemie arl, ita Resources renzo galanello @mcweb unica. it References Chapter notes Initial Posting: September 28, 2000 Last Update: October 23, 2007. Related to this GeneRevi Consumer resources

Robert guthrie 249038E The father of Newborn Genetic Screening

The Father of Newborn Genetic Screening Robert Guthrie

Robert guthrie(1916-1995) Microbiologist. suny Buffalo Son with mr/dd and niece with pKu · Devised“ Guthrie test” originally to monitor PKU therapy · Conceptualized nbs for pku and the “ Guthrie spot

Robert Guthrie (1916-1995) • Microbiologist, SUNY Buffalo • Son with MR/DD and niece with PKU • Devised “Guthrie test” originally to monitor PKU therapy • Conceptualized NBS for PKU and the “Guthrie spot