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Diagnosis of congenital erythropoietic porphyria
This test measures uroporphyrinogen (UPG) III synthase to confirm congenital erythropoietic porphyria, which is typically seen in early infancy. It does not measure UPG I synthase, the enzyme deficient in acute intermittent porphyria (AIP). For AIP (and UPG I synthase), order PBGD_ / Porphobilinogen (PBG) Deaminase, Whole Blood.
This test is not appropriate for assessment of acute abdominal pain.
Congenital erythropoietic porphyria (CEP) is a disease usually seen in pediatric patients.
In our testing experience over the last 10 years, fewer than 5 adult patients have been diagnosed with CEP.
The following algorithms are available in Special Instructions:
-Porphyria (Acute) Testing Algorithm
-Porphyria (Cutaneous) Testing Algorithm
High-Performance Liquid Chromatography (HPLC)