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Test ID: APGP    
Acute Porphyria Gene Panel, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Establishing a molecular diagnosis for patients with acute porphyria

 

Identifying variants within genes known to be associated with acute 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 4 genes associated with acute porphyria: ALAD, CPOX, HMBS, PPOX. See Targeted Genes and Methodology Details for Acute Porphyria 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 acute porphyria.

 

Additional first tier testing may be considered/recommended. For more information see Testing Algorithm section.

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

Acute Porphyria Gene Panel

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

Acute intermittent porphyria
Acute Porphyria
AIP
ALAD
CPOX
HCP
Hereditary coproporphyria
HMBS
PPAN
PPOX
Variegate Porphyria
VP
Next Gen Sequencing Test