Disorders


 

Iron-Refractory Iron Deficiency Anemia


Synonym(s): IRIDA

 

OMIM

GeneLocusProtein
TMPRSS622q13.1Transmembrane protease, serine 6

Laboratory Test Method Prenatal Carrier *
Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA• Sequence analysis of the entire coding region
 
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA• Sequence analysis of the entire coding region
Institute of Predictive and Personalized Medicine of Cancer, Advanced Genetic Diagnostic Unit for Rare Iron Metabolism Disorders (UDGAEMH) - Barcelona, Spain• 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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