Genetic Test
The UROS (Uroporphyrinogen III Synthase) gene encodes the enzyme uroporphyrinogen-III synthase, which is involved in the heme synthesis pathway. This genetic test targets two specific gene variants associated with congenital erythropoietic porphyria.
Disease Description
Congenital erythropoietic porphyria is a disorder characterized by defects in the synthesis of heme—a critical component of hemoglobin—from porphyrins. Affected cats experience excessive accumulation of porphyrins in their bone marrow, plasma, red blood cells, urine, teeth, and bones, causing systemic health issues. The hallmark symptom is heightened sensitivity to sunlight or artificial light, such as fluorescent lighting.
