Disorders


 

Sandhoff Disease


Synonym(s): GM2 Gangliosidosis (Hexosaminidase A- and B-Deficient)

 

OMIM

GeneLocusProtein
HEXB5q13.3Beta-hexosaminidase subunit beta

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• Analyte
• 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
  
Diagenom GmbH, Medical Genetics Laboratory - Rostock, 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  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Enzyme assay
  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
  
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Lysosomal Storage Diseases - New York, NY, USA• Enzyme assay
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Enzyme assay
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA  
Ruhr University, Human Genetics - Bochum, Germany  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Enzyme assay
  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• 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
  
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain  
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA• Enzyme assay
  
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Enzyme assay
  
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, USA• Enzyme assay
  
University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, 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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