Aminolevulinic Acid Dehydratase (ALAD), Whole Blood

Last Modified: 7/18/2016 7:48:24 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: 4 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)

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

 
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: ALAD
Alternate Test Names: ALA Dehydratase, WB; ALAD (Aminolevulinic Acid Dehydratase) Deficiency ; Doss Porphyria; Porphobilinogen (PBG) Synthase
CPT Coding: 82657

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