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Test ID: PBGDW    
Porphobilinogen Deaminase (PBGD), Washed Erythrocytes

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

Confirmation of a diagnosis of acute intermittent porphyria

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

Useful for diagnosis of acute intermittent porphyria. Porphobilinogen deaminase, also known as uroporphyrinogen I synthase, is commonly confused with uroporphyrinogen III synthase, the enzyme deficient in congenital erythropoietic porphyria (CEP). For CEP cases, order UPGC / Uroporphyrinogen III Synthase (Co-Synthase) (UPG III S), Erythrocytes.

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

Enzymatic End point/Spectrofluorometric

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

PBG Deaminase, RBC

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

Acute Intermittent Porphyria (AIP)
Hydroxymethylbilane Synthase (HMBS)
Uroporphyrinogen I Synthase
Uroporphyrinogen Synthase