Disorders

B4GALT1-CDG (CDG-IId)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type IId, CDG2d, CDGIId, Congenital Disorder of Glycosylation IId

OMIM

Gene	Locus	Protein
B4GALT1	9p13	Beta-1,4-galactosyltransferase 1

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
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.