Aminolevulinic Acid Dehydratase (ALAD), Whole Blood

Clinical Significance

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

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

Minimum Volume

3.0 mL Whole Blood

Neonatal Volumne

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

CDM

00913333

CPT Coding

82657