PheCheck™ Validation Study

PheCheck™ Validation Study

The goal of this observational study is to evaluate the performance of the PheCheck™ test for the rapid detection of phenylalanine (Phe) from a fingerstick sample, in patients 1 year or older with phenylketonuria (PKU) or hyperphenylalaninemia. The main objective is comparing the concentration of phenylalanine (Phe) in capillary blood with the reference method (DBS).

The primary objective of this study is to evaluate the performance of the PheCheck™ test for the rapid, quantitative detection of phenylalanine (Phe) direct from a capillary (fingerstick) sample. Results will be compared to reference testing from Dried Blood Spot Cards (DBS).

The PheCheck™ test performs a quantitative determination of phenylalanine in a self-collected or parent/guardian-collected capillary blood sample.

The analysis will evaluate the performance of the analyte concentration of phenylalanine in prospectively collected samples self-collected and tested by patients with PKU, measured by the PheCheck™ test as compared to the standard of care DBS testing performed by a reference lab

Inclusion Criteria:

• 1 year or older and able to have a fingerstick blood collected
• Being monitored for Phenylketonuria (classical PKU, mild PKU, variant PKU, or hyperphenylalaninemia)
• Signed informed consent

Exclusion Criteria:

• Previous enrollment in the study and has completed 3 study visits
• Inability to read and understand instructions