PAH Sequence Analysis
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
Not provided.
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.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood (Fresh)
Volume
3-5 cc
Minimum Volume
3 cc
Container
EDTA tube
Collection Instructions
Draw blood in an EDTA (purple-top) tube(s).
Storage Instructions
Ship at room temperature.
Causes for Rejection
Specimen cannot be frozen.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
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