Porphyria Panel
Use
The Porphyria Panel is designed for individuals with relevant features who have a clinical or suspected diagnosis of porphyria, or those with elevated porphyrin levels in urine, plasma, erythrocytes, and/or feces. It provides a comprehensive genetic analysis to help confirm a diagnosis and understand the genetic cause, which can guide treatment and management.
Special Instructions
When ordering, include detailed clinical notes and completed clinical features checklist to improve variant interpretation quality. Additional testing options are available after receiving your report. The test can be ordered online or via the provided test requisition form, which allows for options like family testing and STAT processing for faster results.
Limitations
This test was developed and performance validated under CLIA and CAP guidelines, but has not been FDA cleared or approved. Results should be interpreted in conjunction with clinical findings and other diagnostic tests. Genetic testing may not detect all variants associated with porphyria. The probability of false positives or false negatives is low but possible, and inconclusive results may occur.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided