Omics Technologies for Clinical Diagnosis and Gene Therapy: Medical Applications in Human Genetics

Genetic Testing for Rare Genetic Disorders

Author(s): Muhammad Tariq*, Naveed Altaf Malik, Ilyas Ahmad, Syeda Seema Waseem and Shahid Mahmood Baig

Pp: 14-28 (15)

DOI: 10.2174/9789815079517122010005

* (Excluding Mailing and Handling)


Rare genetic disorders affect a significant proportion of the global population. A large number of these patients are either misdiagnosed or remain undiagnosed which can have potentially adverse effects, including failure to provide anticipatory prognosis and identify potential treatment. With the completion of HGP, genetic testing has fast grown into a diagnostic discipline introducing new and costeffective diagnostic tests with reasonable accuracy and specificity. NGS technologies, in particular, changed the field of genetic diagnosis by sequencing the entire genome or subset thereof in a single test and accomplishing diagnosis of virtually all diseases, either congenital or late-onset. These technologies have opened up new opportunities and unique challenges. This chapter discusses the importance of genetic testing, its scope, various technologies and approaches and, finally, the opportunities and challenges accompanying the new age genetic tests.

Keywords: aCGH, ARMS-PCR, Genetic disorders, Genetic testing, Massive Parallel Sequencing, NGS, Targeted Gene Panels, WES.

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