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Test Code ALAD Aminolevulinic Acid Dehydratase, Whole Blood

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Reporting Name

ALA Dehydratase, WB

Specimen Type

Whole blood


Ordering Guidance


This test is not useful in assessment of lead intoxication as it reactivates aminolevulinic acid dehydratase that has been inhibited by lead. The preferred test for lead toxicity is PBDV / Lead, Venous, with Demographics, Blood.



Necessary Information


1. Patient’s age is required

2. Include a list of medications the patient is currently taking.



Specimen Required


Patient Preparation: For 24 hours before specimen collection, patient must not consume any alcohol. This is essential as ethanol suppresses aminolevulinic acid dehydratase activity, leading to false-positive results.

Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Lavender top (EDTA) or green top (lithium heparin)

Specimen Volume: 4 mL; full tube

Collection Instructions: Refrigerate specimen as soon as possible.


Reject Due To

Gross hemolysis Reject

Specimen Stability Information

Specimen Type Temperature Time
Whole blood Refrigerated (preferred) 7 days
  Ambient  4 days

Specimen Minimum Volume

3 mL

Day(s) Performed

Tuesday

Specimen Retention Time

14 days

Report Available

2 to 8 days

Reference Values

≥4.0 nmol/L/sec

3.5-3.9 nmol/L/sec (indeterminate)

<3.5 nmol/L/sec (diminished)

 

Reference ranges have not been established for patients who are younger than 16 years.

Useful For

Preferred confirmation test for the diagnosis of aminolevulinic acid dehydratase deficiency porphyria

 

This test is not useful for detecting lead intoxication.

CPT Code Information

82657

LOINC Code Information

Test ID Test Order Name Order LOINC Value
ALAD ALA Dehydratase, WB 12916-3

 

Result ID Test Result Name Result LOINC Value
4021 ALA Dehydratase 12916-3
28399 Interpretation 59462-2
606468 Reviewed By 18771-6

Method Description

Measurement of aminolevulinic acid (ALA) dehydratase activity is based on the rate of synthesis of uroporphyrin from ALA in incubated, lysed erythrocytes. Low yield of uroporphyrin from ALA indicates a deficiency of ALAD.(Unpublished Mayo method)

Genetics Test Information

Aminolevulinic acid dehydratase (ALAD) activity can be inhibited in situations including hereditary tyrosinemia type 1, lead intoxication, and exposure to styrene, trichloroethylene, or bromobenzene. These causes should be ruled out when considering a diagnosis of ALAD deficiency porphyria (ADP). This test will not detect decreased ALAD enzyme activity due to lead intoxication.

Forms

New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)