Porphyria cutanea tarda
Analysis ID 207
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Porphyria cutanea tarda
OMIM +176100
Clinical information Porphyria cutanea tarda (PCT) is a term encompassing a group of acquired and familial disorders in which activity of the heme synthesizing enzyme - uroporphyrinogen decarboxylase (UROD) - is deficient. Approximately 80% of all cases with porphyria cutanea tarda are acquired, whereas 20% are familial. This ratio however may vary among different geographic regions and ethnic groups.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes UROD
Analysis description Sequencing of the coding region of the UROD gene
Analysis indication Symptoms of porphyria cutanea tarda
Analysis time 3 - 4 weeks
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders