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• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea• Sequence analysis of the entire coding region
 
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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