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

Secondary ID A test code used for billing and in test definitions created prior to November 2011

80288

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

Conditional

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

Ruling in or ruling out congenital erythropoietic porphyria

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

This test measures uroporphyrinogen (UPG) III synthase to confirm congenital erythropoietic porphyria. It does not measure UPG I synthase, the enzyme deficient in acute intermittent porphyria (AIP). For AIP (and UPG I synthase), order PBGD_/88925 Porphobilinogen (PBG) Deaminase, Erythrocytes.

Testing Algorithm Delineates situation(s) 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 Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

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

High-Performance Liquid Chromatography (HPLC)

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
Gunthers Disease
Uroporphyrinogen III Co-synthase
Uroporphyrinogen III Synthase