Phosphoethanolamine (PEA), Urine with Creatinine

Test Code

14168

CPT Codes
82131, 82570

Preferred Specimen

5 mL frozen random urine in a preservative-free urine collection cup

Minimum Volume

1 mL

Other Acceptable Specimens

24-hour urine collected in a preservative-free urine container

Transport Temperature

Frozen

Specimen Stability

Room temperature: 5 days
Refrigerated: 7 days
Frozen: 28 days

Methodology
LC-MSMS • Colorimetric (C)

FDA Status
This test was developed and its analytical performance characteristics have been determined by Quest Diagnostics. It has not been cleared or approved by FDA. This assay has been validated pursuant to the CLIA regulations and is used for clinical purposes.

Setup Schedule

Set up: Tues; Report available: 3-5 days

Clinical Significance

Hypophosphatasia (HPP) is a rare metabolic bone disease characterized by defective mineralization of bones and teeth through decreased activity of tissue non-specific alkaline phosphatase (TNSALP). Pathogenic variants in the ALPL gene on chromosome 1 lead to HPP, which can be inherited in an autosomal recessive or autosomal dominant fashion depending on the nature of the variant; the dominant form of the disease typically exhibits a mild phenotype. HPP has a range of severity, with the most severe forms presenting in infancy or even prenatally and the mildest forms presenting in adulthood. However, it should be noted that a prenatal benign form of HPP also exists. Depending on the age of onset and/or severity, HPP can be classified as either Perinatal, Infantile, Juvenile, Adult, or as Odontohypophosphatasia. In the most severe perinatal form of the disease, skeletal deformities are present at birth and can also be detected on prenatal ultrasound. The impaired bone mineralization results in skeletal abnormalities including shortening and bowing of the limbs, a narrow chest leading to hypoplastic lungs. Stillbirths are common with this severe phenotype. Most individuals with perinatal HPP did not survive. Infantile HPP presents within the first six months of life with rickets and increased bone fractures. Growth is affected and patients can experience hypercalcemia and nephrocalcinosis. Childhood HPP presents after six months of age; radiographic features are consistent with rickets and premature loss of teeth with intact roots is a characteristic finding. In adults, HPP often presents with recurrent fractures, stress fractures, slow-healing fractures, and bone and joint pain. In the mildest form of the disease, odontohypophosphatasia dental abnormalities are found in the absence of any skeletal manifestations. The severe form of the disease has an incidence of approximately 1:300,000 based on a French study; the prevalence of the milder autosomal dominant form of the disease was predicted to be as high as 1:6370 from the same study.

HPP can be diagnosed by decreased activity of serum alkaline phosphatase and increased excretion of the TNSALP substrate phosphoethanolamine (PEA) in urine. Molecular analysis of the ALPL gene can also be used to establish a diagnosis of HPP. There is strong genotype-phenotype correlation.
The recombinant enzyme replacement therapy (ERT) was approved by the FDA in 2015 and has been used as first-line therapy in several forms of HPP.

PEA urinalysis is used to support a diagnosis of HPP, especially in patients with low alkaline phosphatase, and to monitor ERT. Several studies showed that elevated urine PEA is a specific biomarker for HPP. However, other bone diseases, some endocrine disorders and hypertension can also cause elevated urine PEA.

The CPT Codes provided in this document are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed. Any Profile/panel component may be ordered separately. Reflex tests are performed at an additional charge.