Disorders

ALG12-CDG (CDG-Ig)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type Ig, CDG1g, CDGIg, Congenital Disorder of Glycosylation 1g, Congenital Disorder of Glycosylation Ig

OMIM

Gene	Locus	Protein
ALG12	22q13.33	Dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichyl-alpha-1,6-mannosyltransferase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, 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.