Molecular Diagnostics in Genetic Testing

Posted: August 19, 2013 at 9:46 pm

NEW YORK, Aug. 19, 2013 /PRNewswire/ -- Reportlinker.com announces that a new market research report is available in its catalogue:

Molecular Diagnostics in Genetic Testing http://www.reportlinker.com/p01597716/Molecular-Diagnostics-in-Genetic-Testing.html#utm_source=prnewswire&utm_medium=pr&utm_campaign=In_Vitro_Diagnostic

Molecular diagnostics in genetic testing brings advanced analytical techniques to the diagnosis and treatment of genetic disorders. The confluence of breakthroughs in genomics and proteomics and the development of microarray devices to measure analytes in the blood and various body tissues are driving significant growth in the segment. Major developments include the integration of specialty labs and gene expression profiling into clinical practice, the introduction and rapid growth of cell-free fetal DNA prenatal testing, the advancement of companion diagnostics for drug development, the widespread installed base of automated instruments for molecular testing and the development of personalized medicine. The genetic testing space is one of the most profitable sectors of molecular diagnostics and is expected to be an area of high growth and corporate change throughout the forecast period. This TriMark Publications report describes the emerging field of molecular diagnostics in genetic testing.

This review analyzes the size and growth of the molecular diagnostics in genetic testing market, including the factors that influence the various market segments within it and the dollar volume of sales, both in the United States and worldwide. Moreover, this analysis profiles the leading companies focused on the molecular diagnostics for genetic testing sector.

1. Overview 8

1.1 Statement of Report 8 1.2 About This Report 8 1.3 Scope of the Report 9 1.4 Objectives 11 1.5 Methodology 11 1.6 Executive Summary 12

2. Role of Molecular Diagnostics and Opportunities in the Genetic Testing Sector 15

2.1 Introduction to Molecular Diagnostics for Genetic Testing 15 2.1.1 Definition and Scope of Molecular Genetic Testing within this Report 15 2.1.2 Key Functions of Molecular Genetic Testing 15 2.1.3 Overview of Molecular Genetic Testing Laboratories 16 2.2 Diagnostic Testing of Genetic Disorders 16 2.2.1 Review of Genetic Disorders: Characterizations of Abnormalities and Patterns of Inheritance 17 2.2.2 Common Genetic Disorders 19 2.3 Carrier Testing for Genetic Disorders 20 2.4 Preimplantation Genetic Diagnosis and Preimplantation Genetic Screening 20 2.5 Prenatal/In utero Genetic Testing 21 2.6 Newborn Genetic Screening Tests 23 2.6.1 Molecular Diagnostics for Newborn Genetic Testing 25 2.7 Pre-symptomatic and Predictive Testing for Adult Onset Disorders 26 2.8 Pharmacogenetics and Pharmacogenomics 26 2.8.1 Current Applications for Pharmacogenetics and Pharmacogenomics 28 2.8.1.1 Warfarin and VKORC1 and CYP2C9 Testing 29 2.8.1.2 Trastuzumab and Lapatinib and HER2 Overexpression Testing 31 2.8.1.3 Clopidogrel and CYP2C19 Testing 32 2.8.1.4 Thiopurines and TPMT Testing 32 2.8.1.5 Cetuximab and EGFR Expression and KRAS Mutation Testing 33 2.8.1.6 Irinotecan and UGT1A1*28 Testing 33 2.8.1.7 Abacavir and HLA-B*5701 Testing 34 2.8.1.8 Carbamazepine and HLA-B*1502 Testing 34 2.9 Tissue and Blood Typing 34 2.9.1 HLA Determination 34 2.9.2 Rhesus D Factor Determination 37 2.10 Parentage/Relationship Testing (Paternity Testing) 38 2.11 Genealogical DNA Testing 38 2.12 Criminal and Forensics Testing 39

3. Introduction to Molecular Diagnostics Technology for Genetic Testing 40

3.1 Introduction to Genomics and Its Opportunity 40 3.1.1 Science Background: Structures and Functions of Nucleic Acids and Proteins 40 3.1.2 The Human Genome 40 3.1.3 Genomics: Opening up of Opportunities in Molecular Diagnostics 41 3.2 Genetic Variability and Disease 42 3.3 Impact of the Human Genome Project on Molecular Diagnostics 43 3.4 Key Considerations for Molecular Diagnostics 44 3.5 Molecular Diagnostics in the Post-Genomic Era 45 3.6 Advances in Molecular Diagnostics Technologies 48 3.7 Molecular Diagnostics Testing Technologies and Platforms 50 3.7.1 Amplification Technologies 50 3.7.1.1 PCR and PCR Derivative Platforms 50 3.7.1.2 Multiple Displacement Amplification (MDA) 55 3.7.1.3 Multiple Annealing and Looping-based Amplification Cycles (MALBAC) 56 3.7.1.4 Whole Genome Amplification 57 3.7.1.5 Nucleic Acid Sequence-based Amplification (NASBA) 57 3.7.2 Detection of Amplified Gene Products 57 3.7.2.1 High Resolution Melting Analysis 58 3.7.2.2 Microparticle-based Flow Cytometry 59 3.7.3 DNA and Oligonucleotide Microarrays and Chips 59 3.7.3.1 Array Comparative Genomic Hybridization (aCGH) 62 3.7.4 Gene Sequencing 62 3.7.4.1 Sanger Sequencing 62 3.7.4.2 Next Generation Sequencing 63 3.7.5 Fluorescence In situ Hybridization (FISH) 68

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Molecular Diagnostics in Genetic Testing

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