PBG Deaminase, WB
GTR Test Accession: Help GTR000613095.2
Last updated in GTR: 2024-04-29
Last annual review date for the lab: 2023-05-30 LinkOut
At a Glance
Acute intermittent porphyria
porphobilinogen deaminase
Biochemical Genetics - Analyte: Fluorometry
Confirmation of a diagnosis of acute intermittent 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: 1
Condition/Phenotype Identifier
Test Targets
Analytes Help
Total analytes: 1
Analyte Associated Condition
Total methods: 1
Method Category Help
Test method Help
Instrument *
* 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 ECC, eds. Biochemical and Molecular Basis of Pediatric Disease. 4th ed. AACC Press; 2010:307-324

Target population: Help
Confirmation of a diagnosis of acute intermittent porphyria.
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
Recommended fields not provided:
Technical Information
Test Procedure: Help
Measurement of porphobilinogen deaminase (PBGD) activity is based on the measurement of the rate of synthesis of uroporphyrin from porphobilinogen (PBG) in incubated, lysed erythrocytes. Low yield of uroporphyrin from PBG indicates a deficiency of PBGD.
View citations (1)
  • Bustad HJ, Vorland M, Rønneseth E, Sandberg S, Martinez A, Toska K. Conformational stability and activity analysis of two hydroxymethylbilane synthase mutants, K132N and V215E, with different phenotypic association with acute intermittent porphyria. Biosci Rep. 2013;33(4). doi:10.1042/BSR20130045. Epub 2013 Aug 08. PMID: 23815679.
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 0.16% to 0.26% (N=5 each). Inter assay precision was performed at 2 levels: CV results were 5.7% and 7.3% (N=5 each). The analytical … View more
Assay limitations: Help
A normal result does not rule-out acute intermittent porphyria; 5% to 10% of affected individuals will have normal erythrocyte porphobilinogen deaminase activity. Additionally, enzyme activity may be increased during an acute attack; therefore, the enzyme level should be assessed when the patient is asymptomatic.
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.