Disorders


 

Formiminotransferase Deficiency


Synonym(s): FIGLU-Uria, Formiminoglutamic Aciduria

 

OMIM

GeneLocusProtein
FTCD21q22.3Formimidoyltransferase-cyclodeaminase

Laboratory Test Method Prenatal Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
 

* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.

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