UPGC - Overview: Uroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes

Test Catalog

Test Name

Test ID: UPGC    
Uroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes

Useful For Suggests clinical disorders or settings where the test may be helpful

Diagnosis of congenital erythropoietic porphyria

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

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.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

Method Name A short description of the method used to perform the test

High-Performance Liquid Chromatography (HPLC)

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

Uroporphyrinogen III Synthase, RBC

Aliases Lists additional common names for a test, as an aid in searching

Congenital Erythropoietic Porphyria (CEP)
Congenital Porphyria
Erythropoietic Uroporphyria
Uroporphyrinogen III Co-synthase
Uroporphyrinogen III Synthase
Gunther Disease