Disorders

Aspartylglycosaminuria

Synonym(s): Glycosylasparaginase Deficiency

Gene	Locus	Protein
AGA	4q34.3	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase

Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Enzyme assay
CeGaT GmbH - Tuebingen, Germany
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Analyte
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GeneDx - Gaithersburg, MD, USA
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Analyte
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Sequence analysis of select exons • Analyte • Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay

^* 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.