Referred Tests
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing. | |
Test ID: PCGP
Porphyria Comprehensive Gene Panel, Varies
Useful For 
Suggests clinical disorders or settings where the test may be helpful
Follow up for abnormal biochemical results suggestive of porphyria
Establishing a molecular diagnosis for patients with porphyria
Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of at-risk family members
Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request
This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 11 genes associated with porphyria: ALAD, ALAS2, CLPX, CPOX, FECH, GATA1, HFE, HMBS, PPOX, UROD, UROS. See Targeted Genes and Methodology Details for Porphyria Comprehensive Gene Panel in Special Instructions and Method Description for additional details.
Identification of a pathogenic variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for porphyria.
The biochemical testing approach for diagnosis of patients with a suspected porphyria is most effective when done in a thoughtful manner. For recommendations for first-tier biochemical testing, see Porphyria (Acute) Testing Algorithm and Porphyria (Cutaneous) Testing Algorithm in Special Instructions.
Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.
The following algorithms are available in Special Instructions:
Special Instructions Library of PDFs including pertinent information and forms related to the test
Method Name A short description of the method used to perform the test
Custom Sequence Capture and Targeted Next-Generation Sequencing followed by Polymerase Chain Reaction (PCR) and Sanger Sequencing
NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.
Reporting Name Lists a shorter or abbreviated version of the Published Name for a test
Aliases Lists additional common names for a test, as an aid in searching
Acute intermittent porphyria
Acute Porphyria
Acute hepatic porphyria
AIP
CPOX
Erythropoietic protoporphyria
EPP
HCP
Hereditary coproporphyria
HMBS
PPAN
PPOX
Porphyria cutanea tarda
Variegate Porphyria
VP