Update on Clinically Relevant Genetic Testing in Pediatric Dermatology

Abstract

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.

Keywords: Chromosomal microarray; Ehlers–Danlos; Fbroblast culture; Karyotype; Whole-exome sequencing.