Hyperphenylalaninemia Panel
Use
This test is intended for individuals with relevant clinical features or a suspected diagnosis of hyperphenylalaninemia. It is particularly suitable for those with elevated phenylalanine levels detected during newborn screening, PAH deficiency, or even modest hyperphenylalaninemia. The panel analyzes genetic variations that could be linked to these conditions and assists in confirming a diagnosis, thereby aiding in the planning of appropriate medical management.
Special Instructions
The test is approved in New York and follows CAP and CLIA regulations. It is crucial to ensure proper specimen collection and prepare the patient adequately before the test. Detailed clinical information assists in variant interpretation.
Limitations
The test is not cleared or approved by the US FDA. It follows internal quality standards and regulations for genetic testing. Actual detection rates and test performance can vary depending on the specific patient context and the quality of the specimen provided.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
2-3 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided