Disorders

MPDU1-CDG (CDG-If)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type If, CDG1f, CDGIf, Congenital Disorder of Glycosylation 1f, Congenital Disorder of Glycosylation If

OMIM

Gene	Locus	Protein
MPDU1	17p13.1-p12	Mannose-P-dolichol utilization defect 1 protein

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.