UPG Decarboxylase, WB
GTR Test Accession: Help GTR000613105.1
Last updated in GTR: 2023-11-09
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Porphyria cutanea tarda; Hepatoerythropoietic porphyria
Uroporphyrinogen decarboxylase
Biochemical Genetics - Analyte: High-performance liquid chromatography (HPLC)
Preferred test for the confirmation of a diagnosis of porphyria …
Not provided
Establish or confirm diagnosis
Ordering Information
Offered by: Help
Test short name: Help
Specimen Source: Help
Who can order: Help
  • Genetic Counselor
  • Health Care Provider
  • Licensed Dentist
  • Licensed Physician
  • Nurse Practitioner
  • Physician Assistant
  • Public Health Mandate
  • Registered Nurse
Lab contact: Help
Gisele (Gessi) Bentz Pino, MS, CGC, Certified Genetic counselor, CGC, Genetic Counselor
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
Based on applicable state law
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
High-performance liquid chromatography (HPLC)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Clinical utility: Help
Establish or confirm diagnosis
View citations (1)
  • Tortorelli S, Kloke K, Raymond K: Disorders of porphyrin metabolism. In: Dietzen DJ, Bennett MJ, Wong EDD, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

Target population: Help
Preferred test for the confirmation of a diagnosis of porphyria cutanea tarda type II and hepatoerythropoietic porphyria.
View citations (4)
Variant Interpretation:
What is the protocol for interpreting a variation as a VUS? Help

Will the lab re-contact the ordering physician if variant interpretation changes? Help
Not provided. N/A
Is research allowed on the sample after clinical testing is complete? Help
Research testing is only performed under IRB approved protocol with an opt-out policy in place.
Recommended fields not provided:
Technical Information
Test Procedure: Help
This procedure is performed by incubation of lysed red blood cells with delta-aminolevulinic acid as the substrate followed by analysis of the porphyrins formed.(Unpublished Mayo method)
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Accuracy was assessed by analysis of normal and abnormal specimens; all samples were clinically concordant. Intra assay precision was performed at 3 levels: CV results ranged from 2.0% to 5.9% (N=3 each). Inter assay precision was performed at 3 levels: CV results ranged from 1.9% to 9.4% (N=3 each). The … View more
Assay limitations: Help
Alcohol ingestion within 24 hours of specimen collection may lead to a false-positive result. Exposure of specimens to significant heat during the summer months may cause a decrease in the uroporphyrinogen decarboxylase enzyme activity.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help

Method used for proficiency testing: Help
Formal PT program

PT Provider: Help

Description of PT method: Help
Formal PT program.

Description of internal test validation method: Help
This test was laboratory developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements.
Software used to interpret novel variations Help

Laboratory's policy on reporting novel variations Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Category: FDA exercises enforcement discretion
Additional Information

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.