Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel
Use
The Invitae Elevated Phenylalanine (Hyperphenylalaninemia) Panel analyzes genes that are known to cause increased phenylalanine levels on newborn screening (NBS) or plasma amino acid analysis. Hyperphenylalaninemia is most commonly due to impaired function of phenylalanine hydroxylase (PAH), the enzyme that catabolizes the amino acid phenylalanine to tyrosine, but it can also be caused by defects in the regeneration or biosynthesis of the enzyme co-factor tetrahydrobiopterin (BH4). This test is intended for individuals with a positive newborn screen for phenylketonuria (PKU), elevated plasma phenylalanine, abnormal urine pterins (tetrahydrobiopterin compounds), or a suspected diagnosis of hyperphenylalaninemia.
Special Instructions
Not provided.
Limitations
Limits of detection include structural rearrangements like inversions, gene conversion events, translocations, and variants embedded in complex sequence architecture which may not be detected. Single-exon copy number events may not be analyzed in rare situations due to inherent sequence properties or isolated reduction in data quality. It may not be possible to fully resolve certain details about variants such as mosaicism, phasing, or mapping ambiguity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
Other tests from different labs that may be relevant