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Test Code PBALP Porphobilinogen and Aminolevulinic Acid, Plasma


Shipping Instructions


Ship specimens refrigerated or frozen and in amber vial to protect from light.



Necessary Information


Include a list of medications the patient is currently taking.



Specimen Required


Patient Preparation: Patient must not consume any alcohol for at least 24 hours prior to specimen collection.

Supplies: Amber Frosted Tube, 5mL (T915)

Collection Container/Tube:

Preferred: Green top (sodium heparin)

Acceptable: Green top (lithium heparin), lavender top (EDTA), yellow top (ACD A or B)

Submission Container/Tube: Amber vial

Specimen Volume: 1 mL

Collection Instructions:

1. It is recommended that specimen collection occur during the acute phase. Porphobilinogen and aminolevulinic acid may be normal when the patient is not exhibiting symptoms.

2. Centrifuge and aliquot plasma into plastic vial.


Useful For

An equivalent option to urine for first-line test for evaluation of a suspected acute porphyria

 

Monitoring patients undergoing treatment for an acute intermittent porphyria or other acute porphyria

Genetics Test Information

Plasma porphobilinogen and aminolevulinic acid (ALA) are elevated during the symptomatic phase of the acute porphyrias: acute intermittent porphyria (AIP), hereditary coproporphyria, and variegate porphyria.

 

An isolated elevation of ALA may be due to the very rare ALA dehydratase deficiency porphyria (ADP) or more commonly, a secondary inhibition of ALA dehydratase.

 

This test can be used as part of the diagnostic assessment and monitoring of patients with AIP and other acute porphyrias.

 

If ordered for diagnostic purposes, results are most informative when the specimen is obtained while the patient is having symptoms.

 

Additional testing must be performed to distinguish among the acute porphyrias.

Reporting Name

PBG and ALA, P

Specimen Type

Plasma

Specimen Minimum Volume

0.3 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Plasma Frozen (preferred) 21 days LIGHT PROTECTED
  Refrigerated  7 days LIGHT PROTECTED

Reject Due To

Gross hemolysis OK
Gross lipemia OK
Gross icterus OK

Reference Values

Porphobilinogen: ≤0.5 nmol/mL

Aminolevulinic Acid: ≤0.5 nmol/mL

Day(s) Performed

Wednesday

Report Available

3 to 9 days

Specimen Retention Time

14 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

82135

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PBALP PBG and ALA, P 96911-3

 

Result ID Test Result Name Result LOINC Value
38029 Porphobilinogen, P 17474-8
38028 Aminolevulinic Acid, P 79646-6
38030 Interpretation (PBALP) 59462-2
38031 Reviewed By 18771-6

Disease States

  • Porphyria