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• Sequence analysis of the entire coding region
• Enzyme assay
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany• Sequence analysis of the entire coding region
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel• Sequence analysis of the entire coding region
 
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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic• Sequence analysis of the entire coding region
 
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Sequence analysis of the entire coding region
 
GGA - Galil Genetic Analysis - Kazerin, Israel• Sequence analysis of the entire coding region
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Enzyme assay
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
 
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Enzyme assay
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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• Sequence analysis of the entire coding region
• 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• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel• Linkage analysis
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Sequence analysis of the entire coding region
• 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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