Porphobilinogen Deaminase (PBGD), Whole Blood

Last Modified: 7/18/2016 8:35:08 AM


Client Notes: Informed Consent must be acquired from Patient - Mayo Genetic Testing Consent Form
Patient Preparation: Patient should abstain from alcohol for 24 hours
Specimen Requirements: 3.0 mL Whole Blood in a Green Top Tube - Na Heparin
Collection Instructions: Tube to be filled completely

Immediately place collected specimen on wet ice

Include a list of medications the patient is currently taking
Minimum Volume: 3.0 mL Whole Blood
Transport & Storage: Temperature/Stability: 7 days Refrigerated
Rejection Criteria: Hemolysis
Reference Range:

> or =7.0 nmol/L/sec
6.0-6.9 nmol/L/sec (indeterminate)
<6.0 nmol/L/sec (diminished)

Acute intermittent porphyria (AIP) is 1 of the very few diseases where a single laboratory test can be diagnostic (porphobilinogen deaminase levels <6.0 nmol/sec/L are considered diagnostic for AIP). However, because AIP management requires a highly restricted lifestyle, we strongly encourage a second specimen to confirm abnormal results.
Test Comments: Reference ranges have not been established for patients who are <16 years of age.
Methodology: Enzymatic End point/Spectrofluorometric
Clinical Significance:

Confirmation of a diagnosis of acute intermittent porphyria (AIP)
Diagnosis of AIP during latent periods
Custom Panel: No

PRODUCTION SCHEDULE

Turn Around Time: 2 to 3 days
Days Performed: Monday, Tuesday, Wednesday, Thursday, Friday
Sites Performed: Mayo Laboratory
PHL Test Code: MSOT
EPIC Test Code:
Send Out Test Code: PBGD
Alternate Test Names: Acute Intermittent Porphyria; AIP; HMBS (Hydroxymethylbilane Synthase); Hydroxymethylbilane Synthase (HMBS); PBG Deaminase, WB; Uroporphyrinogen I Synthase
CPT Coding: 82657

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