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
Erythropoietic Protoporphyria (EPP)
Ferrochelatase Deficiency
Protoporphyria
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