" /> FTCD gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing - CISMeF





Preferred Label : FTCD gene full mutation analysis:Find:Pt:Bld/Tiss:Doc:Sequencing;

LOINC status : ACTIVE;

LOINC display name : FTCD gene full mutation analysis Sequencing Doc (Bld/Tiss);

LOINC long common name : FTCD gene full mutation analysis in Blood or Tissue by Sequencing;

LOINC short name : FTCD Full Mut Anl Bld/T Seq;

LOINC description : Full gene sequence analysis for the detection of a mutation in the coding regions and intron/exon boundaries of the FTCD gene for confirming glutamate formiminotransferase deficiency in a patient or ruling out other diseases associated with high levels of urine formiminoglutamate.;

Details


You can consult :


Nous contacter.
28/04/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.