Disorders


 

Mucolipidosis I


Synonym(s): Glycoprotein Neuraminidase Deficiency, ML 1, ML1, Sialidosis

 

OMIM

GeneLocusProtein
NEU16p21Sialidase-1

Laboratory Test Method Prenatal Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Enzyme assay
  
Centogene AG, Rare Disease Company - Rostock, Germany  
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Analyte
• Enzyme assay
  
GeneDx - Gaithersburg, MD, USA  
Genetic Diagnosis and Research Center, Genetiks - Istanbul, Turkey  
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA• Analyte
• Enzyme assay
  
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Analyte
• Enzyme assay
  
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
  
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Enzyme assay
  
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA• Analyte
  
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Analyte
• Enzyme assay
  
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
• Enzyme assay
  
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
  
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Analyte
• Enzyme assay
  
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, USA• Analyte
• 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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