PAH Sequence Analysis

Casandra

Casandra Test Code BA57859Version 1 (DRAFT)

Performing Lab

Lab Baylor GeneticsLab Test ID 3135CPT Code 81406

PAH Sequence Analysis

Clinical Use

Use

The PAH Sequencing Analysis aims to identify pathogenic variants linked to phenylketonuria (PKU), a metabolic disorder resulting from phenylalanine accumulation. Untreated PKU can lead to severe intellectual disability, developmental delays, seizures, and skin conditions such as eczema. Early identification of PKU is crucial and can guide dietary treatment, enabling affected individuals to manage their condition effectively. This test is particularly indicated for patients with either a clinical diagnosis or a family history of PKU. Pregnant women who are diagnosed with PKU require close monitoring throughout their pregnancy due to possible risks associated with the condition.

Special Instructions

Sample collection guidelines include using EDTA tubes for blood draws and ensuring saliva is collected with the provided Oragene DNA Self-Collection Kit. Samples should be shipped at room temperature and require specific handling to maintain integrity. It is vital to adhere to shipping conditions to ensure timely laboratory receipt of specimens.

Limitations

The analysis is limited to recognized pathogenic variants in the PAH gene. Variants of uncertain significance may not yield clear clinical implications. Interpretation of results is based on current knowledge, which may evolve over time. Carrier screening results may not completely rule out the risk of having an affected child, particularly in cases of incomplete penetrance. The test's efficacy is contingent upon the availability and appropriateness of the samples provided, as well as the laboratory’s capability to process them correctly.

Test Details