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Test Catalog

Test ID: GFDKM    
FTCD Gene, Known Mutation

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


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

Diagnostic confirmation of glutamate formiminotransferase deficiency when familial mutations have been previously identified


Carrier screening of individuals with a family history of glutamate formiminotransferase deficiency when mutation(s) in the FTCD gene have been identified in a family member


Prenatal testing when 2 familial mutations have previously been identified in an affected family member

Genetics Test Information Provides information that may help with selection of the correct test or proper submission of the test request

FTCD Gene, Known Mutation

Reflex Tests Lists test(s) that may or may not be performed, at an additional charge, depending on the result and interpretation of the initial test(s)

Test IDReporting NameAvailable SeparatelyAlways Performed
FBCFibroblast Culture for Genetic TestYesNo

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

GFDKM: Polymerase Chain Reaction (PCR) Followed by DNA Sequencing Analysis

(PCR is utilized pursuant to a license agreement with Roche Molecular Systems, Inc.)

FBC: Cell Culture

Reporting Name A shorter/abbreviated version of the Published Name for a test; an abbreviated test name

FTCD Gene, Known Mutation

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

Glutamate Formiminotrasferase Deficiency (FIGLU)
FIGLU (Glutamate Formiminotrasferase Deficiency)