Disorders


 

GNPTAB-Related Mucolipidoses


 

OMIM

GeneLocusProtein
GNPTAB12q23.3N-acetylglucosamine-1-phosphotransferase subunits alpha/beta

Laboratory Test Method Prenatal Carrier *
CeGaT GmbH - Tuebingen, Germany  
Centogene AG, Rare Disease Company - Rostock, Germany• Linkage analysis
  
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Analyte
  
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  
GENETAQ, Molecular Genetics Centre - Malaga, Spain• Targeted mutation analysis
  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
  
Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA  
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Targeted mutation analysis
• Enzyme assay
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Analyte
  
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Uniparental disomy study (UPD)
  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Analyte
  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Enzyme assay
  
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA• Analyte
  
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Analyte
  
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, USA• Analyte
  
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, 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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