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

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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

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

See Porphyria (Cutaneous) Testing Algorithm in Special Instructions.

Special Instructions Library of PDFs including pertinent information and forms related to the 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 Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

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