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Test ID: PCGP    
Porphyria Comprehensive Gene Panel, Varies

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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 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:

-Porphyria (Acute) Testing Algorithm

-Porphyria (Cutaneous) Testing Algorithm

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.

No

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

Porphyria Comprehensive Gene Panel

Aliases Lists additional common names for a test, as an aid in searching

NextGen Sequencing Test
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