Disorders

Sialuria

Synonym(s): French Type Sialuria

Gene	Locus	Protein
GNE	9p13.1	Bifunctional 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.