Disorders


 

Multiple Sulfatase Deficiency


Synonym(s): Mucosulfatidosis, Sulfatidosis, Juvenile, Austin Type

 

OMIM

GeneLocusProtein
SUMF13p26.1Sulfatase-modifying factor 1

Laboratory Test Method Prenatal Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Enzyme assay
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
GeneDx - Gaithersburg, MD, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany• Sequence analysis of the entire coding region
 
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
• Enzyme assay
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, 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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