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Test Catalog

Test ID: PPOXK    
PPOX Gene, Known Mutation

NY State Approved Indicates the status of NY State approval and if the test is orderable for NY State clients.


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

Predictive testing for variegate porphyria when a PPOX mutation has been identified in an affected family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

Documentation of the specific familial mutation must be provided with the specimen in order to perform this test.

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo

Testing Algorithm Delineates situation(s) when tests are added to the initial order. This includes reflex and additional tests.

If skin biopsy is received, fibroblast culture for genetic test will be added and charged separately.

Special Instructions and Forms Describes specimen collection and preparation information, test algorithms, and other information pertinent to test. Also includes pertinent information and consent forms to be used when requesting a particular test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) Amplification/DNA Sequencing is used to detect the presence of a specific mutation in the PPOX gene that was previously identified in an affected family member.

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.) 

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

PPOX Gene, Known Mutation

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

Variegate porphyria (VP)
VP (Variegate porphyria)
Acute intermittent porphyria (AIP)
AIP (Acute intermittent porphyria)