Disorders


 

Arylsulfatase A Deficiency


Synonym(s): ARSA Deficiency, Metachromatic Leukodystrophy, MLD

 

GeneReviewOMIM

GeneLocusProtein
ARSA22q13.31-qterArylsulfatase A

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Enzyme assay
  
CeGaT GmbH - Tuebingen, 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
  
Children's University Hospital, Human Genetics - Berne, Switzerland  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany  
diagenos - Osnabrueck, Germany  
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel  
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA• Enzyme assay
  
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA  
GeneDx - Gaithersburg, MD, USA  
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic  
GENETAQ, Molecular Genetics Centre - Malaga, Spain  
GGA - Galil Genetic Analysis - Kazerin, Israel  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Enzyme assay
  
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada• Targeted mutation analysis
  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
• Enzyme assay
  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
• Enzyme assay
  
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA  
Medgene, MedGene - Bratislava, Slovakia  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Enzyme assay
  
Praxis fuer Humangenetik Wien - Vienna, Austria  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel  
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel• Targeted mutation analysis
  
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• Sequence analysis of select exons
• Analyte
• Enzyme assay
  
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Enzyme assay
  
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea  
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
  
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Targeted mutation analysis
• Analyte
• Enzyme assay
  
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, USA• Enzyme assay
  

* 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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