Disorders

ALG1-CDG (CDG-Ik)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type Ik, CDG1k, CDGIk, Congenital Disorder of Glycosylation 1k, Congenital Disorder of Glycosylation Ik

OMIM

Gene	Locus	Protein
ALG1	16p13.3	Chitobiosyldiphosphodolichol beta-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

^* 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.