Disorders


 

Aspartylglycosaminuria


Synonym(s): Glycosylasparaginase Deficiency

 

OMIM

GeneLocusProtein
AGA4q34.3N(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.

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