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Test ID PIPU Pipecolic Acid, Random, Urine

Useful For

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function

 

Detecting abnormal elevations of pipecolic acid in urine

Genetics Test Information

Pipecolic acid is not detected by conventional organic acid analysis of urine.

 

In the newborn period, pipecolic acid levels are more likely to be abnormal in urine than in plasma or serum. Abnormal levels of pipecolic acid should be interpreted together with the results of other biochemical markers of peroxisomal disorders, such as plasma C22-C26 very long-chain fatty acids, phytanic acid, pristanic acid, red blood cell plasmalogens, and bile acid intermediates.

Highlights

Measurement of pipecolic acid is a useful diagnostic tool for differentiating between peroxisomal biogenesis disorders (Zellweger spectrum disorders) and peroxisomal disorders caused by single enzyme deficiencies, such as X-linked adrenoleukodystrophy.

 

Results must be interpreted together with the results of other biochemical markers for peroxisomal disorders.

 

Both urine and plasma are suitable specimens for the detection of pipecolic acid.

Method Name

Gas Chromatography Mass Spectrometry (GC-MS)

Reporting Name

Pipecolic Acid, U

Specimen Type

Urine


Necessary Information


Patient's age is required.



Specimen Required


Supplies: Urine tubes, 10 mL (T068)

Container/Tube: Plastic, 10-mL urine tube

Specimen Volume: 5 mL

Collection Instructions:

1. Collect a random urine specimen.

2. No preservative.


Specimen Minimum Volume

2 mL

Specimen Stability Information

Specimen Type Temperature Time
Urine Frozen (preferred) 94 days
  Refrigerated  14 days

Reference Values

≤31 days: ≤223.8 nmol/mg creatinine

32 days-5 months: ≤123.1 nmol/mg creatinine

6 months-11 months: ≤45.0 nmol/mg creatinine

≥1 year: ≤5.7 nmol/mg creatinine

Day(s) Performed

Tuesday

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

82542

LOINC Code Information

Test ID Test Order Name Order LOINC Value
PIPU Pipecolic Acid, U 33659-4

 

Result ID Test Result Name Result LOINC Value
81248 Pipecolic Acid, U 33659-4
29952 Interpretation 59462-2
29954 Reviewed By 18771-6

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.

Report Available

3 to 9 days

NY State Approved

Yes

Testing Algorithm

For more information see Epilepsy: Unexplained Refractory and/or Familial Testing Algorithm.