Article
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Pediatric dermatology - 1 Mar 2018
Lucky Anne W, Dagaonkar Neha, Lammers Karen, Husami Ammar, Kissell Diane, Zhang Kejian
Abstract excerpt
BACKGROUND: Historically, diagnosis of epidermolysis bullosa has required skin biopsies for electron microscopy, direct immunofluorescence to determine which gene(s) to choose for genetic testing, or both. METHODS: To avoid these invasive tests, we developed a high-throughput next-generation sequencing (NGS)-based diagnostic assay called EBSEQ that allows simultaneous detection of mutations in 21 genes with known...
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