Disorders

DPM1-CDG (CDG-Ie)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type Ie, CDG1e, CDGIe, Congenital Disorder of Glycosylation 1e, Congenital Disorder of Glycosylation Ie

OMIM

Gene	Locus	Protein
DPM1	20q13.1	Dolichol-phosphate mannosyltransferase

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region
Charles University in Prague, First Faculty of Medicine - General University Hospital in Prague, Department of Pediatrics and Adolescent Medicine, Laboratory for Study of Mitochondrial Disorders - Prague, Czech Republic	• 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.