Disorders

DOLK-CDG (CDG-Im)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type Im, CDG1m, CDGIm, Congenital Disorder of Glycosylation 1m, Congenital Disorder of Glycosylation Im, Dolichol Kinase Deficiency

OMIM

Gene	Locus	Protein
DOLK	9q34.13	Dolichol kinase

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.