TEST CATALOG ORDERING & RESULTS SPECIMEN HANDLING CUSTOMER SERVICE EDUCATION & INSIGHTS
Test Catalog

Test ID: PBGD_    
Porphobilinogen Deaminase, Whole Blood

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

-The Heme Biosynthetic Pathway

Specimen Type Describes the specimen type validated for testing

Whole blood

Advisory Information

This test is 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), Erythrocytes.

Necessary Information

Include a list of medications the patient is currently taking.

Specimen Required Defines the optimal specimen required to perform the test and the preferred volume to complete testing

Patient Preparation: Abstinence from alcohol for at least 24 hours prior to specimen collection is essential as ethanol induces porphobilinogen deaminase (PBGD) activity, which may lead to a false-normal result.

Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or green top (lithium heparin)

Specimen Volume: 4 mL

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

Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available in Special Instructions:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.

Specimen Minimum Volume Defines the amount of sample necessary to provide a clinically relevant result as determined by the Testing Laboratory

3 mL

Reject Due To Identifies specimen types and conditions that may cause the specimen to be rejected

Gross hemolysis Reject

Specimen Stability Information Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included

Specimen TypeTemperatureTimeSpecial Container
Whole bloodRefrigerated (preferred)8 days
 Ambient 7 days