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Test ID: FECHS    
Ferrochelatase (FECH) Gene, Full Gene Analysis

Secondary ID A test code used for billing and in test definitions created prior to November 2011

60371

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

Conditional

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

Confirmation of a diagnosis of erythropoietic protoporphyria (EPP) following positive biochemical genetic test results obtained through PEE / Porphyrins Evaluation, Blood

 

Carrier testing for individuals with a family history of EPP in the absence of known mutations in the family

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) Followed by DNA Sequence Analysis
(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

FECH Gene, Full Gene Analysis

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

EPP (Erythropoietic Protoporphyria)
Erythropoietic Protoporphyria (EPP)
Ferrochelatase Deficiency
Protoporphyria