Disorders

Gaucher Disease

Synonym(s): Glucocerebrosidase Deficiency, Glucosylceramidase Deficiency

Gene	Locus	Protein
GBA	1q22	Glucosylceramidase

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Targeted mutation analysis
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Targeted mutation analysis • Enzyme assay
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Enzyme assay
Centre for DNA Fingerprinting and Diagnostics, Diagnostics Division - Hyderabad, India	• Enzyme assay
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA	• Targeted mutation analysis
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Enzyme assay
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Targeted mutation analysis
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Targeted mutation analysis
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Sequence analysis of select exons • Targeted mutation analysis
General University Hospital in Prague, Institute of Inherited Metabolic Disorders - Praha, Czech Republic
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Targeted mutation analysis
Genetrack Biolabs Inc., Molecular Genetics Laboratory - Vancouver, Canada	• Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Enzyme assay
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Sequence analysis of select exons
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Targeted mutation analysis
Instituto de Medicina Genmica, IMEGEN - Paterna, Spain	• Targeted mutation analysis
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA	• Enzyme assay
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Enzyme assay
LabCorp, Molecular Biology - Research Triangle Park, NC, USA	• Targeted mutation analysis
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Targeted mutation analysis
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	• Targeted mutation analysis
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA	• Targeted mutation analysis
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Lysosomal Storage Diseases - New York, NY, USA	• Targeted mutation analysis • Enzyme assay
New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA	• Targeted mutation analysis
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
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Rabin Medical Center, Molecular Genetics - Petah Tikva, Israel	• Targeted mutation 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 • Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Targeted mutation analysis • Enzyme assay
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Targeted mutation analysis • Linkage analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis • Enzyme assay
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA	• Enzyme assay
University Hospitals - University Hospitals Laboratory Service Foundation, Center for Human Genetics Laboratory - Cleveland, OH, USA	• Targeted mutation analysis
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
University of Washington, Molecular Development Laboratory - Seattle, WA, USA

^* 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.