Disorders

SRD5A3-CDG (CDG-Iq)

Synonym(s): CDGIq, Congenital Disorder of Glycosylation 1q, Congenital Disorder of Glycosylation Iq

Gene	Locus	Protein
SRD5A3	4q12	Probable polyprenol reductase

Laboratory	Test Method	Prenatal	Carrier *
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
Radboud University Nijmegen Medical Centre, Genome Diagnostics Nijmegen - Nijmegen, Netherlands

^* 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.