Disorders


 

Mucopolysaccharidosis Type II


Synonym(s): Hunter Syndrome, I2S Deficiency, Iduronate 2-Sulfatase Deficiency, MPS II

 

GeneReviewOMIM

GeneLocusProtein
IDSXq27.3-q28Iduronate 2-sulfatase

Laboratory Test Method Prenatal Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA• Sequence analysis of the entire coding region
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
• Deletion/duplication analysis
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Analyte
• Enzyme assay
 
Children's University Hospital, Human Genetics - Berne, Switzerland• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA• Sequence analysis of the entire coding region
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA• Analyte
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
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• 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
 
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
• Deletion/duplication analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
• Enzyme assay
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Sequence analysis of the entire coding region
• Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Analyte
• 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• 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
• Deletion/duplication analysis
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
• Enzyme assay
 
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
 
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of the entire coding region
• Linkage analysis
• 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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