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Test Code UPGDW Uroporphyrinogen Decarboxylase, Washed Erythrocytes

Reporting Name

UPG Decarboxylase, RBC

Useful For

Diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria

Testing Algorithm

The workup of patients with a suspected porphyria is most effective when following a stepwise approach. See Porphyria (Cutaneous) Testing Algorithm or call 800-533-1710 to discuss testing strategies. If guidance is needed for an acute form of porphyria, the Porphyria (Acute) Testing Algorithm is also available.

Method Name

High-Performance Liquid Chromatography (HPLC)/Incubation of Lysed Erythrocytes

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Specimen Type

Washed RBC


Ordering Guidance


Porphyria cutanea tarda (PCT) type I (sporadic), the most common form of PCT, exhibits normal erythrocyte enzyme activity. The preferred test for diagnosis is PQNU / Porphyrins, Quantitative, 24 Hour, Urine or PQNRU / Porphyrins, Quantitative, Random, Urine.



Necessary Information


Include a list of medications the patient is currently taking.



Specimen Required


Patient Preparation: Patient should abstain from alcohol for 24 hours prior to specimen collection. Abstinence from alcohol is essential for at least 24 hours as alcohol suppresses enzyme activity for 24 hours after ingestion.

Collection Container/Tube:

Preferred: Green top (sodium or lithium heparin)

Acceptable: Lavender top (EDTA)

Submission Container/Tube: Plastic vial

Specimen Volume: Washed erythrocyte suspension

Collection Instructions: Collect and process whole blood specimen as follows:

1. Transfer entire specimen to a 12-mL graduated centrifuge tube.

2. Centrifuge specimen at 4° C for 10 minutes at 2,000 rpm.

3. Record volume of packed cells and the total volume of the specimen.

4. Discard supernatant plasma.

5. Wash erythrocytes 2 times by resuspension with 5 mL of cold 0.9% saline, discarding supernatant after each washing.

6. Resuspend packed cells to the original total volume with 0.9% saline. Invert specimen gently to mix.


Specimen Minimum Volume

1 mL of washed and resuspended erythrocytes

Specimen Stability Information

Specimen Type Temperature Time Special Container
Washed RBC Frozen (preferred) 14 days
  Refrigerated  14 days
  Ambient  4 days

Reject Due To

All specimens will be evaluated at Mayo Clinic Laboratories for test suitability.

Reference Values

≥1.00 RU (normal)

0.80-0.99 RU (indeterminate)

<0.80 RU (indicative of PCT type II)

RU = Relative Units

Day(s) Performed

Tuesday, Thursday

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
UPGDW UPG Decarboxylase, RBC 49596-0

 

Result ID Test Result Name Result LOINC Value
31892 UPG Decarboxylase, RBC 49596-0
606381 Interpretation 59462-2
606382 Reviewed By 18771-6

Report Available

3 to 7 days

NY State Approved

Yes

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:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

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 US Food and Drug Administration.