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

Reporting Name

Uroporphyrinogen III Synthase, RBC

Useful For

Diagnosis of congenital erythropoietic porphyria

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 (PBG) 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 draw 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
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 12811-6

 

Result ID Test Result Name Result LOINC Value
80288 Uroporphyrinogen III Synthase, RBC 12811-6

Clinical Information

The porphyrias are a group of inherited disorders resulting from enzyme defects in the heme biosynthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare, autosomal recessive porphyria that typically presents in early infancy. Also known as Gunther disease, CEP results from a deficiency of uroporphyrinogen III (co-) synthase (UROIIIS). In most cases, the disorder is suggested during the first few days or weeks of life by pink, violet, or brown urinary staining of diapers. Clinical symptoms include hemolytic anemia, hepatosplenomegaly, skin photosensitivity, scarring and blistering, red or brown dental discoloration (erythrodontia), and hypertrichosis (excess body hair). Growth and cognitive developmental delays are commonly observed in individuals with CEP. A few cases of adult-onset CEP have been reported, typically associated with a myelodysplastic syndrome.

 

The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Cutaneous) Testing Algorithm in Special Instructions or call 800-533-1710 to discuss testing strategies.

Analytic Time

7 days (Not reported on Saturday or Sunday)

Reject Due To

Hemolysis

Mild reject; Gross reject

Lipemia

NA

Icterus

NA

Other

Ambient or frozen whole blood

NY State Approved

Yes

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.