Disorders

COG8-CDG (CDG-IIh)

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type IIh, CDG2h, CDGIIh, Congenital Disorder of Glycosylation IIh

OMIM

Gene	Locus	Protein
COG8	16q22.1	Conserved oligomeric Golgi complex subunit 8

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

^* 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.