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LEARNING OBJECTIVES

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LEARNING OBJECTIVES

  1. Know key technology platforms for performing DNA-based clinical tests

  2. Learn specific examples of diseases that are tested by DNA-based technologies

  3. Recognize the future potential of DNA technology in the clinical laboratory based on recent historical developments

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INTRODUCTION

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The discovery of the structure of deoxyribonucleic acid (DNA) by Watson and Crick in 1953 revolutionized the science of genetics.1 Knowledge of the structure of DNA enabled a basic understanding of how genetic information is encoded and inherited. In addition, this discovery was the starting point of modern molecular diagnostic technology. Examination of the 60 years since the Watson and Crick publication shows an initially slow, but steady pace of innovation, leading to the sequencing of the first human genome (Table 13-1). In the 15 years since the completion of the first human genome draft, there has been an explosion of novel technologies which have been commercialized and implemented in the clinical laboratory. Here, we review the technologies, both old and new, that are utilized in today's clinical laboratory and give examples of their clinical utility in the pediatric population.

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TABLE 13-1TIMELINE OF KEY EVENTS IN DNA TECHNOLOGY

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