Disorders


 

Mucopolysaccharidosis Type IVA


Synonym(s): Morquio A Disease, Morquio Syndrome A, MPS IVA, MPS4A, MPSIVA

 

GeneReviewOMIM

GeneLocusProtein
GALNS16q24.3N-acetylgalactosamine-6-sulfatase

Laboratory Test Method Prenatal Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
  
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA  
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
  
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA• Analyte
• Enzyme assay
  
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, 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
  
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
• Enzyme assay
  
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Targeted mutation analysis
• Enzyme assay
  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
• Enzyme assay
  
Medgene, MedGene - Bratislava, Slovakia  
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• 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 Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, 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.

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