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Test ID: FECHK    
Ferrochelatase (FECH) Gene, Known Mutation

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

60372

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

Diagnostic confirmation of ferrochelatase (FECH) deficiency when familial mutations have been previously identified

 

Carrier screening of at-risk individuals when a mutation in the FECH gene has been identified in an affected family member

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, Known Mutation

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

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