Disorders


 

Krabbe Disease


Synonym(s): Galactocerebrosidase Deficiency, Galactosylceramidase Deficiency, Galactosylceramide Beta-Galactosidase Deficiency, GALC Deficiency, Globoid Cell Leukodystrophy

 

GeneReviewOMIM

GeneLocusProtein
GALC14q31Galactocerebrosidase

Laboratory Test Method Prenatal Carrier *
Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Enzyme assay
CeGaT GmbH - Tuebingen, Germany• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
Centogene AG, Rare Disease Company - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Enzyme assay
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India• Enzyme assay
 
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany• Sequence analysis of the entire coding region
• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA• Sequence analysis of the entire coding region
• Deletion/duplication analysis
GeneDx - Gaithersburg, MD, 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• Mutation scanning of select exons
 
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland• Deletion/duplication analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden• Enzyme assay
Karolinska University Hospital, Department of Clinical Genetics - Stockholm, Sweden• Sequence analysis of the entire coding region
• Linkage analysis
• Deletion/duplication analysis
 
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany• Sequence analysis of the entire coding region
 
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain• Targeted mutation analysis
• Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA• Enzyme assay
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland• Sequence analysis of the entire coding region
• Deletion/duplication analysis
Medgene, MedGene - Bratislava, Slovakia• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA• Targeted mutation analysis
• Enzyme assay
 
Praxis fuer Humangenetik Wien - Vienna, Austria• Sequence analysis of the entire coding region
• Deletion/duplication analysis
 
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA• Sequence analysis of the entire coding region
• Targeted mutation analysis
• Deletion/duplication analysis
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia• Targeted mutation analysis
• Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden• Sequence analysis of select exons
• Targeted mutation analysis
• Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India• Enzyme assay
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India• Sequence analysis of the entire coding region
• Targeted mutation analysis
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA• Enzyme assay
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, 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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