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Test Code Billings Clinic: 9105 Mayo: ALAD Aminolevulinic Acid Dehydratase, Whole Blood

Reporting Name

ALA Dehydratase, WB

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Useful For

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

 

This test is not useful for detecting lead intoxication.

Method Name

Enzymatic End point/Spectrofluorometric


Ordering Guidance


This assay 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: Patient must not consume any alcohol for 24 hours before specimen collection. 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: Full tube 4 mL

Collection Instructions: Refrigerate specimen as soon as possible.


Specimen Type

Whole blood

Specimen Minimum Volume

3 mL

Specimen Stability Information

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

Reject Due To

Gross hemolysis Reject

Reference Values

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

 

≥4.0 nmol/L/sec

3.5-3.9 nmol/L/sec (indeterminate)

<3.5 nmol/L/sec (diminished)

Interpretation

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.

Day(s) Performed

Thursday

Report Available

2 to 8 days

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. It has not been cleared or approved by the US Food and Drug Administration.

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

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)