Update on Clinically Relevant Genetic Testing in Pediatric Dermatology.

Autor:	Boyd KP; Department of Dermatology, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA., Asumda FZ; Department of Clinical Genomics, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA., Hand JL; Department of Dermatology, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA; Department of Clinical Genomics, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA. Electronic address: hand.jennifer@mayo.edu.
Jazyk:	angličtina
Zdroj:	Dermatologic clinics [Dermatol Clin] 2022 Jan; Vol. 40 (1), pp. 1-8. Date of Electronic Publication: 2021 Oct 22.
DOI:	10.1016/j.det.2021.08.001
Abstrakt:	Clinical genetic testing enables the detection of specific gene mutations and variants that predispose individuals and their family members to disease. In recent years, tremendous strides have been made in the variety of clinically useful tests. Targeted testing for specific mutations that cause well-known syndromes enables the efficient diagnosis of genetic diseases with cutaneous manifestations. Testing for specific genes, however, may not always reveal a diagnosis. Expanded options are available. This review outlines the major types of available technology with a focus on those tests most useful for pediatric dermatologists. Competing Interests: Disclosure J.L. Hand is a section editor for genetic skin disorders at UpToDate, Inc. The authors have no other disclosures. (Copyright © 2021 Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
Externí odkaz:	Zobrazit plný text záznamu