Use

This test analyzes the whole exome but focuses analysis on a phenotype‑driven targeted gene list associated with congenital ichthyosis and related disorders, aiding diagnosis in patients presenting with ichthyosis phenotypes. It reports pathogenic, likely pathogenic, and variants of uncertain significance within the targeted genes; benign variants are not routinely reported. The test may help identify sequence variants and multi‑exon deletions or duplications in the selected genes for clinical diagnosis and genetic counseling.