Disorders

Hexosaminidase A Deficiency

Synonym(s): GM2 Gangliosidosis, HEX A Deficiency

Gene	Locus	Protein
HEXA	15q24.1	Beta-hexosaminidase subunit alpha

Laboratory	Test Method	Prenatal	Carrier *
Academic Medical Centre, University of Amsterdam, DNA Diagnostics Laboratory - Amsterdam, Netherlands	• Targeted mutation analysis
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA
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
bio.logis Center for Human Genetics - Frankfurt, Germany
Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
CeGaT GmbH - Tuebingen, Germany
Center for Human Genetics, Bioscientia GmbH - Ingelheim, Germany	• Targeted mutation analysis
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
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Enzyme assay
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Enzyme assay
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Targeted mutation analysis
GENDA - Ciudad autonoma de Buenos Aires, Argentina	• Targeted mutation analysis
GeneDx - Gaithersburg, MD, USA
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
GSTS Pathology, DNA Laboratory - London, Great Britain
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• 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
InVitae Corporation - San Francisco, CA, USA
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Enzyme assay
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany
LabCorp, Molecular Biology - Research Triangle Park, NC, USA	• Targeted mutation analysis
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Enzyme assay
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Targeted mutation analysis
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada	• Targeted mutation analysis
Medgene, MedGene - Bratislava, Slovakia
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory (DNA Division) - New York, NY, USA	• Targeted mutation analysis • Enzyme assay
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 • Enzyme assay
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA	• Enzyme assay
Praxis fuer Humangenetik Wien - Vienna, Austria
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis • Enzyme assay
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
Ruhr University, Human Genetics - Bochum, Germany
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	• Enzyme assay
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Targeted mutation analysis • Linkage analysis
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• 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 Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, 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.