Hyperphenylalaninemia/Phenylalanine Hydroxylase Deficiency via the PAH Gene
Use
This test is intended for individuals with relevant clinical features or a suspected diagnosis of hyperphenylalaninemia, individuals who have elevated phenylalanine levels detected during newborn screening, or those confirmed with PAH deficiency. It may also be relevant for reproductive partners of individuals known to carry a pathogenic variant in the PAH gene. The test helps in confirming a genetic diagnosis and subsequently guides in managing the condition, carrier testing, and prenatal diagnosis.
Special Instructions
Test requisition can be completed online or via the paper form. The test can be expedited with STAT testing for urgent cases. Exome-wide CNV analysis is available as an add-on for this exome or genome platform-based test.
Limitations
The test may not detect all types of mutations. It is optimized to detect copy number variations and single nucleotide variants via NGS platforms, but some limitations exist in detecting very large deletions or duplications, balanced translocations, and deep intronic variants. Sensitivity may be affected by low-quality or contaminated specimens. Results must be interpreted in the context of the patient's clinical presentation and family history.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided