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

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

Diagnosis of congenital erythropoietic porphyria

 

This test is not useful for diagnosis of acute intermittent porphyria (AIP).

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

This test is not appropriate for assessment of acute abdominal pain.

Highlights

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 associated with a myelodysplastic syndrome.

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 Library of PDFs including pertinent information and forms related to the test

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

High-Performance Liquid Chromatography (HPLC)

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

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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