XERODERMA PIGMENTOSUM: CLINICAL EXOME PANEL (Sec. & CNVs) – 10 genes

The Xeroderma Pigmentosum (XP) panel studies a group of autosomal recessive diseases caused by mutations in genes involved in the repair system for DNA damaged by ultraviolet radiation. Patients exhibit extreme sun sensitivity, early lentigo and actinic keratoses, and a very high risk of skin and eye cancer at a young age. The analysis includes genes involved in the nucleotide excision repair (NER) pathway, such as XPA, XPC, ERCC2, ERCC3, ERCC4, and ERCC5, as well as DDB2 and POLH, which are associated with specific clinical subtypes and varying degrees of neurodegeneration. Identifying pathogenic variants in these genes allows for confirmation of the molecular diagnosis, classification of the clinical subtype (XP-A to XP-G or XP-V variant), and guidance for sun damage prevention and personalized cancer surveillance. Genes analyzed: XPA, XPC, DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, POLH. You can consult the complete list of genes analyzed by contacting Genotica.