Disorders


 

MOGS-CDG (CDG-IIb)


Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type IIb, CDG2b, CDGIIb, Congenital Disorder of Glycosylation IIb

 

OMIM

GeneLocusProtein
MOGS2p13.1Mannosyl-oligosaccharide glucosidase

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

* 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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