Disorders

N-Acetylglutamate Synthase Deficiency

Synonym(s): NAGS Deficiency

Gene	Locus	Protein
NAGS	17q21.31	N-acetylglutamate synthase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA
Children's National Medical Center, Biochemical Genetics and Metabolism Laboratory - Washington, DC, USA
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel
GeneDx - Gaithersburg, MD, USA
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain

^* 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.