Home Collection

Department : CLINICAL PATHOLOGY

The Phenylketonuria (PKU) – Urine Spot test is a diagnostic test used to detect abnormal levels of phenylalanine in the urine. PKU is a genetic disorder in which the body is unable to properly break down the amino acid phenylalanine due to a deficiency of the enzyme phenylalanine hydroxylase.

If untreated, high levels of phenylalanine can lead to serious complications, including intellectual disability, developmental delays, and neurological problems. This test is commonly used as a screening tool, especially in newborns and infants.

The urine spot test is a simple and non-invasive method that helps in early detection and timely management of PKU, allowing dietary interventions to prevent complications.

The purpose of the Phenylketonuria (PKU) – Urine Spot Test is to

• To detect elevated phenylalanine levels in urine
• To screen for phenylketonuria (PKU)
• To diagnose metabolic disorders
• To support early detection in newborns
• To monitor individuals with PKU