Disorders

Free Sialic Acid Storage Disorders

Synonym(s): Free Neuraminic Acid Storage Disease, N-Acetylneuraminic Acid Storage Disease, NANA Storage Disease

Gene	Locus	Protein
SLC17A5	6q13	Sialin

Laboratory	Test Method	Prenatal	Carrier *
CeGaT GmbH - Tuebingen, Germany
Center for Nephrology and Metabolic Disorders, Laboratory for Molecular Diagnostics - Weisswasser, Germany
Centogene AG, Rare Disease Company - Rostock, Germany
GeneDx - Gaithersburg, MD, USA
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Medical Neurogenetics - Atlanta, GA, USA
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Analyte
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Mutation scanning of select exons
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA	• Analyte
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, 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.