Test Id : PETNU
Phosphoethanolamine, Quantitative, Random, Urine
Useful For
Suggests clinical disorders or settings where the test may be helpful
To aid in the diagnosis of hypophosphatasia, especially in the setting of low alkaline phosphatase, bone fractures, and early tooth loss
Monitoring of affected individuals on therapy
Method Name
A short description of the method used to perform the test
Liquid Chromatography Tandem Mass Spectrometry (LC-MS/MS)
This test is covered by patents held by Quest Diagnostics
NY State Available
Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name
Lists a shorter or abbreviated version of the Published Name for a test
Aliases
Lists additional common names for a test, as an aid in searching
Phosphoethanolamine
PEA
Hypophosphatasia
HPP
PEtN
Phosphoethanolaminuria
Specimen Type
Describes the specimen type validated for testing
Urine
Necessary Information
1. Patient's age is required.
2. Include family history, clinical condition (asymptomatic or acute episode), diet, and drug therapy information.
Specimen Required
Defines the optimal specimen required to perform the test and the preferred volume to complete testing
Supplies: Urine Tubes, 10 mL (T068)
Container/Tube: Clean plastic urine tube
Specimen Volume: 2 mL
Collection Instructions:
1. Collect a random urine specimen.
2. No preservative.
Specimen Minimum Volume
Defines the amount of sample necessary to provide a clinically relevant result as determined by the testing laboratory. The minimum volume is sufficient for one attempt at testing.
1 mL
Reject Due To
Identifies specimen types and conditions that may cause the specimen to be rejected
Specimen Stability Information
Provides a description of the temperatures required to transport a specimen to the performing laboratory, alternate acceptable temperatures are also included
| Specimen Type | Temperature | Time | Special Container |
|---|---|---|---|
| Urine | Frozen (preferred) | 70 days | |
| Refrigerated | 14 days |
Useful For
Suggests clinical disorders or settings where the test may be helpful
To aid in the diagnosis of hypophosphatasia, especially in the setting of low alkaline phosphatase, bone fractures, and early tooth loss
Monitoring of affected individuals on therapy
Clinical Information
Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test
Hypophosphatasia (HPP) is a metabolic bone disorder caused by disease-causing variants in the ALPL gene. This gene encodes the tissue-nonspecific alkaline phosphatase (TNSALP) enzyme, which plays an essential role in mineralization of the skeleton and teeth. As a result, HPP is characterized by defective mineralization of bones and teeth in the presence of low activity of serum and bone alkaline phosphatase (ALP).
Inheritance of HPP can be autosomal dominant or recessive. Clinical variability is common in both dominant and recessive forms, with the most severe cases resulting from autosomal recessive inheritance. HPP is most severe when is presents perinatally or in infancy and may be lethal, while heterozygous individuals are more likely to manifest moderate, mild, or even asymptomatic disease. Regardless of the number of ALPL disease-causing variants, many affected individuals suffer from pain, disability, and reduced quality of life because of decreased bone mineralization.
The disease spectrum of HPP is a continuum; however, there are seven clinically recognized forms of HPP determined by age of onset and severity of symptoms. These include perinatal severe, perinatal benign, infantile, severe childhood, mild childhood, adult, and odontohypophosphatasia. The wide range of clinical features and age of onset make timely diagnosis of HPP challenging, especially with later onset or milder forms of the disease. Common clinical findings include rickets, premature loss of deciduous teeth, vitamin B6 responsive seizures, and bone pain.
Hypophosphatasia can be diagnosed by decreased activity of serum ALP and increased excretion of the TNSALP substrate phosphoethanolamine (PEA) in urine. Molecular analysis of ALPL is also recommended to confirm a diagnosis of HPP (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify gene list ID: RENAL-D5DR9D). There is strong genotype-phenotype correlation with some variants. Monitoring urinary PEA is useful for assessing response to enzyme replacement therapy, which was approved by the US Food and Drug Administration in 2015 and is a first-line therapy for several forms of HPP.
Reference Values
Describes reference intervals and additional information for interpretation of test results. May include intervals based on age and sex when appropriate. Intervals are Mayo-derived, unless otherwise designated. If an interpretive report is provided, the reference value field will state this.
< or =12 months: 15-341 nmol/mg creatinine
13-35 months: 33-342 nmol/mg creatinine
3-6 years: 19-164 nmol/mg creatinine
7-8 years: 12-118 nmol/mg creatinine
9-17 years: <88 nmol/mg creatinine
> or =18 years: <48 nmol/mg creatinine
An interpretative report will be provided.
Interpretation
Provides information to assist in interpretation of the test results
Elevations of phosphoethanolamine may be indicative of hypophosphatasia.
Abnormal results should be confirmed using ALKP / Alkaline Phosphatase, Total and Isoenzymes, Serum and molecular genetic testing of ALPL (CGPH / Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies; specify Gene List ID: RENAL-D5DR9D).
Cautions
Discusses conditions that may cause diagnostic confusion, including improper specimen collection and handling, inappropriate test selection, and interfering substances
Phosphoethanolamine (PEA) can also be elevated in individuals with other bone diseases and asymptomatic carriers of ALPL variants, as well as in individuals with hypertension, liver disease, and celiac disease. Normal excretion of PEA does not rule out a diagnosis of hypophosphatasia, as affected individuals without elevations have been reported.
Clinical Reference
Recommendations for in-depth reading of a clinical nature
1. Shajani-Yi Z, Ayala-Lopez N, Black M, Dahir KM. Urine phosphoethanolamine is a specific biomarker for hypophosphatasia in adults. Bone. 2022;163:116504
2. Dahir KM, Nunes ME. Hypophosphatasia. In: Adam MP, Feldman J, Mirzaa GM, et al, eds. GeneReviews [Internet]. University of Washington, Seattle; 2007. Accessed May 22, 2026. Available at www.ncbi.nlm.nih.gov/sites/books/NBK1150/
3. Seefried L, Genest F, Petryk A, Veith M. Effects of asfotase alfa in adults with pediatric-onset hypophosphatasia over 24 months of treatment. Bone. 2023;175:116856. doi:10.1016/j.bone.2023.116856
Method Description
Describes how the test is performed and provides a method-specific reference
Quantitative analysis of phosphoethanolamine (PEA) is performed by liquid chromatography tandem mass spectrometry (LC-MS/MS) by labeling PEA present in urine with aTRAQ Reagent 121. Samples are combined with aTRAQ Reagent 113-labeled Standard Mix and partially dried to remove readily volatile solvents. Phosphoethanolamine is separated and detected by LC-MS/MS (Sciex 4500). The concentration of PEA is established by comparison of the ion intensity (121-labeled PEA) to that of the internal standard (113-labeled PEA).(Unpublished Mayo method)
PDF Report
Indicates whether the report includes an additional document with charts, images or other enriched information
Day(s) Performed
Outlines the days the test is performed. This field reflects the day that the sample must be in the testing laboratory to begin the testing process and includes any specimen preparation and processing time before the test is performed. Some tests are listed as continuously performed, which means that assays are performed multiple times during the day.
Tuesday
Report Available
The interval of time (receipt of sample at Mayo Clinic Laboratories to results available) taking into account standard setup days and weekends. The first day is the time that it typically takes for a result to be available. The last day is the time it might take, accounting for any necessary repeated testing.
Specimen Retention Time
Outlines the length of time after testing that a specimen is kept in the laboratory before it is discarded
Performing Laboratory Location
Indicates the location of the laboratory that performs the test
Fees
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Test Classification
Provides information regarding the medical device classification for laboratory test kits and reagents. Tests may be classified as cleared or approved by the US Food and Drug Administration (FDA) and used per manufacturer instructions, or as products that do not undergo full FDA review and approval, and are then labeled as an Analyte Specific Reagent (ASR) product.
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
Provides guidance in determining the appropriate Current Procedural Terminology (CPT) code(s) information for each test or profile. The listed CPT codes reflect Mayo Clinic Laboratories interpretation of CPT coding requirements. It is the responsibility of each laboratory to determine correct CPT codes to use for billing.
CPT codes are provided by the performing laboratory.
CPT codes are provided by the performing laboratory.
82131
LOINC® Information
Provides guidance in determining the Logical Observation Identifiers Names and Codes (LOINC) values for the order and results codes of this test. LOINC values are provided by the performing laboratory.
| Test Id | Test Order Name | Order LOINC Value |
|---|---|---|
| PETNU | Phosphoethanolamine, QN, Random, U | In Process |
| Result Id | Test Result Name |
Result LOINC Value
Applies only to results expressed in units of measure originally reported by the performing laboratory. These values do not apply to results that are converted to other units of measure.
|
|---|---|---|
| 623432 | Interpretation | 59462-2 |
| 623430 | Phosphoethanolamine | 28604-7 |
| 623431 | Reviewed By | 18771-6 |