Disorders


 

Sialuria


Synonym(s): French Type Sialuria

 

GeneReviewOMIM

GeneLocusProtein
GNE9p13.1Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
  
HIBM Research Group - Reseda, CA, USA• Sequence analysis of select exons
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea  
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Analyte
  

* 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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