Genetic Testing for Rare Genetic Disorders

Muhammad Tariq; Naveed Altaf Malik; Ilyas Ahmad; Syeda Seema Waseem; Shahid Mahmood Baig

Genetic Testing for Rare Genetic Disorders

Muhammad Tariq, Naveed Altaf Malik, Ilyas Ahmad, Syeda Seema Waseem, Shahid Mahmood Baig

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

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.

Original language	English
Title of host publication	Omics Technologies for Clinical Diagnosis and Gene Therapy
Subtitle of host publication	Medical Applications in Human Genetics
Publisher	Bentham Science Publishers
Pages	14-28
Number of pages	15
ISBN (Electronic)	9789815079517
ISBN (Print)	9789815079524
Publication status	Published - 1 Jan 2022
Externally published	Yes

Keywords

ACGH
ARMS-PCR
Genetic disorders
Genetic testing
Massive Parallel Sequencing
NGS
Targeted Gene Panels
WES

Cite this

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T1 - Genetic Testing for Rare Genetic Disorders

AU - Tariq, Muhammad

AU - Malik, Naveed Altaf

AU - Ahmad, Ilyas

AU - Waseem, Syeda Seema

AU - Baig, Shahid Mahmood

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AB - 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.

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KW - Genetic testing

KW - Massive Parallel Sequencing

KW - NGS

KW - Targeted Gene Panels

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BT - Omics Technologies for Clinical Diagnosis and Gene Therapy

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Genetic Testing for Rare Genetic Disorders

Abstract

Keywords

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