Porphyria Report

PorphyriaPorphyria is a group of rare genetic disorders that affect the production of heme, a component of hemoglobin. Porphyria is caused by mutations in genes involved in the production and regulation of heme, and this report tests for genetic variants that are known to affect these processes.10 genes analyzed It is recommended if: This report is designed for individuals with a family history of porphyria or individuals with symptoms of the condition, such as abdominal pain, skin sensitivity, and neurological symptoms. Genetic testing can confirm a diagnosis, provide information on disease severity and progression, and inform treatment and management decisions. Testing can also inform family planning decisions and provide reassurance for unaffected family members. List of main conditions: Cutaneous porphyria Variegate porphyria Acute intermittent porphyria X-linked erythropoietic protoporphyria