Cutis Laxa Panel

The CDL offers a 13 gene panel for genes associated with cutis laxa. Pathogenic variants in ALDH18A1, ATP6V0A2, ATP6V1A, ATP6V1E1, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, and SLC2A10 have been identified in individuals with cutis laxa. This panel is recommended for individuals with possible autosomal dominant, autosomal recessive, and X-linked forms of cutis laxa.

Cutis laxa is a rare connective tissue disorder characterized by loose, hanging skin that is inelastic. Affected individuals have skin that hangs in loose folds, often causing the face and body to have a droopy appearance. In severe cases, the internal organs such as the lungs, heart, intestines, or arteries may also be affected.