FECHZ - Overview: Ferrochelatase (FECH) Gene, Full Gene Analysis

Test Catalog

Test Name

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

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, Whole Blood

 

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

Special Instructions and Forms Library of PDFs including pertinent information and consent forms, specimen collection and preparation information, test algorithms, and other information pertinent to test

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

Polymerase Chain Reaction (PCR) Followed by DNA Sequence Analysis

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

Yes

Reporting Name A shorter or 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
FECHS