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Test Code UPGC Uroporphyrinogen III Synthase (Co-Synthase), Erythrocytes

Reporting Name

Uroporphyrinogen III Synthase, RBC

Useful For

Diagnosis of congenital erythropoietic porphyria

 

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

Testing Algorithm

The following algorithms are available in Special Instructions:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

WB Heparin


Advisory Information


This test is most appropriately used for pediatric patients.

 

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 (also known as porphobilinogen deaminase), the enzyme deficient in acute intermittent porphyria (AIP). For AIP (and UPG I synthase), order PBGD_ / Porphobilinogen Deaminase, Whole Blood.



Necessary Information


Include a list of medications the patient is currently taking.



Specimen Required


All porphyrin tests on erythrocytes can be performed on 1 collection tube.

 

Patient Preparation: Patient should abstain from alcohol for 24 hours.

Container/Tube: Green top (heparin)

Specimen Volume: Full tube

Collection Instructions: Immediately place specimen on wet ice.


Specimen Minimum Volume

3 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
WB Heparin Refrigerated 7 days

Reference Values

≥75 Relative Units (normal)

 

See The Heme Biosynthetic Pathway in Special Instructions.

Day(s) and Time(s) Performed

Varies

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UPGC Uroporphyrinogen III Synthase, RBC 11066-8

 

Result ID Test Result Name Result LOINC Value
80288 Uroporphyrinogen III Synthase, RBC 11066-8

Method Name

High-Performance Liquid Chromatography (HPLC)

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.