Disorders


 

Chitotriosidase Deficiency


 

OMIM

GeneLocusProtein
CHIT11q32.1Chitotriosidase-1

Laboratory Test Method Prenatal Carrier *
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Enzyme assay
  

* 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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