Disorders


 

Schindler Disease


Synonym(s): N-Acetyl-alpha-D-Galactosaminidase (NAGA) Deficiency, Neuroaxonal Dystrophy, Schindler Type

 

OMIM

GeneLocusProtein
NAGA22q13.2Alpha-N-acetylgalactosaminidase

Laboratory Test Method Prenatal Carrier *
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
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
 
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA• Analyte
 
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Enzyme assay
 
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Lysosomal Storage Diseases - New York, NY, USA• Sequence analysis of the entire coding region
• Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Analyte
• Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, 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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