Aminolevulinic Acid Dehydratase (ALAD), Whole Blood

Overview

  • EPIC Code:
  • Soft Test Code:
  • MSOT
  • Send Out Test Code:
  • ALAD
Alternate Names
  • ALA Dehydratase, WB
  • ALAD (Aminolevulinic Acid Dehydratase) Deficiency
  • Doss Porphyria
  • Porphobilinogen (PBG) Synthase
Clinical Significance

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria.
This test will not detect lead intoxication

 


Specimen Collection & Preparation

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

Alternate Specimen

3.0 mL Whole Blood in a Lavender Top Tube - EDTA

TransportAndStorage

4 days Refrigerated

Collection Instructions

Tube to be filled completely

Immediately place collected specimen on wet ice

Include a list of medications the patient is currently taking

Clinical Interpretation

Reference Range:

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

Abnormal results are reported with a detailed interpretation including an overview of the results and their significance, a correlation to available clinical information provided with the specimen, differential diagnosis, and recommendations for additional testing when indicated and available, and a phone number to reach a laboratory director in case the referring physician has additional questions


Methodology:
  • Enzymatic End point
  • Spectrofluorometric

Clinical Significance

Confirmation of a diagnosis of aminolevulinic acid dehydratase deficiency porphyria.
This test will not detect lead intoxication

 


Production Schedule

Sites Performed
  • Mayo Laboratory
Days Performed
Monday
Tuesday
Wednesday
Thursday
Friday
Departments
  • Sendouts - Miscellaneous
Turn Around Time

2 to 3 days


Coding & Compliance

CDM

00913333


CPT Coding

82657