Disorders

Congenital Disorders of Glycosylation

Synonym(s): Carbohydrate-Deficient Glycoprotein Syndromes, CDG Syndromes

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany	• Protein analysis
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	• Protein analysis
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Protein analysis
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Protein analysis
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Protein analysis
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Protein analysis
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Protein analysis
Ziv Medical Centre, Research Laboratory - Safed, Israel	• Protein 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.