Disorders

Mucopolysaccharidosis Type IIIA

Synonym(s): MPS IIIA, Sanfilippo Syndrome Type A

Gene	Locus	Protein
SGSH	17q25.3	N-sulphoglucosamine sulphohydrolase

Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics Freiburg, Kohlhase Laboratory - Freiburg, Germany
Centogene AG, Rare Disease Company - Rostock, Germany	• Enzyme assay
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India	• Analyte • Enzyme assay
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
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 • Enzyme assay
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Targeted mutation analysis • Enzyme assay
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Targeted mutation analysis • Analyte • Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, USA	• Analyte • Enzyme assay
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, 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.