Genetic evaluation of an adult

Aeron M. Small; Monica Giovanni; Michael F. Murray

doi:10.1016/B978-0-12-817344-2.00003-4

Genetic evaluation of an adult

Aeron M. Small
, Monica Giovanni
, Michael F. Murray

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

Abstract

Most adult care providers have limited experience in incorporating DNA-based testing into the clinical care of their patients. This chapter reviews a basic approach to the evaluation of an adult who presents with concern for a genetic disorder. An overview of common presentations, importance of family history, available genetic testing, and the approach to management is discussed here.

Original language	English
Title of host publication	Handbook of Clinical Adult Genetics and Genomics
Subtitle of host publication	A Practice-Based Approach
Publisher	Elsevier
Pages	21-29
Number of pages	9
ISBN (Electronic)	9780128173442
DOIs	https://doi.org/10.1016/B978-0-12-817344-2.00003-4
State	Published - 1 Jan 2020
Externally published	Yes

Keywords

Family history
Genetic evaluation
Genetic testing
Genome
Monogenic disease
Phenome
Polygenic disease

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10.1016/B978-0-12-817344-2.00003-4

Cite this

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title = "Genetic evaluation of an adult",

abstract = "Most adult care providers have limited experience in incorporating DNA-based testing into the clinical care of their patients. This chapter reviews a basic approach to the evaluation of an adult who presents with concern for a genetic disorder. An overview of common presentations, importance of family history, available genetic testing, and the approach to management is discussed here.",

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AU - Giovanni, Monica

AU - Murray, Michael F.

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AB - Most adult care providers have limited experience in incorporating DNA-based testing into the clinical care of their patients. This chapter reviews a basic approach to the evaluation of an adult who presents with concern for a genetic disorder. An overview of common presentations, importance of family history, available genetic testing, and the approach to management is discussed here.

KW - Family history

KW - Genetic evaluation

KW - Genetic testing

KW - Genome

KW - Monogenic disease

KW - Phenome

KW - Polygenic disease

UR - https://www.scopus.com/pages/publications/85124867412

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DO - 10.1016/B978-0-12-817344-2.00003-4

M3 - Chapter

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SP - 21

EP - 29

BT - Handbook of Clinical Adult Genetics and Genomics

PB - Elsevier

ER -

Genetic evaluation of an adult

Abstract

Keywords

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Cite this