Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region
Athena Diagnostics Inc, Reference Lab - Worcester, MA, USA	• Enzyme assay
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Buffalo General Medical Center, Robert Guthrie Biochemical and Molecular Genetics Laboratory - Buffalo, NY, USA	• Enzyme assay
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • 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 Eastern Ontario, Molecular Genetics Diagnostic Laboratory - Ottawa, Canada	• Sequence analysis of the entire coding region
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte • Enzyme assay
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Targeted mutation analysis
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Duke University Health System, Glycogen Storage Disease Laboratory - Durham, NC, USA	• Sequence analysis of the entire coding region • Analyte • Enzyme assay • Protein analysis
Duke University Health System, Molecular Diagnostics Laboratory - Durham, NC, USA	• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Analyte • Enzyme assay
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
GENETAQ, Molecular Genetics Centre - Malaga, Spain	• Sequence analysis of the entire coding region • Targeted mutation analysis
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Enzyme assay
GSTS Pathology, DNA Laboratory - London, Great Britain	• Sequence analysis of the entire coding region
Integrated Genetics, Cytogenetics and Biochemistry Laboratory - Santa Fe, NM, USA	• Enzyme assay
Integrated Genetics, Molecular Diagnostic Laboratory - Westborough, MA, USA	• Sequence analysis of the entire coding region • Sequence analysis of select exons
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany	• Sequence analysis of the entire coding region
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
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA	• Enzyme assay
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Pronto Diagnostics Ltd., ProntoLab - MLPA Lab - Tel Aviv, Israel	• Sequence analysis of the entire coding region
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Sequence analysis of the entire coding region • Analyte • Enzyme assay • Protein analysis
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay • Mutation scanning of select exons
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Sequence analysis of the entire coding region • Enzyme assay
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Sequence analysis of the entire coding region
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of the entire coding region
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA	• Enzyme assay
University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic	• Sequence analysis of the entire coding region
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, USA	• Enzyme assay
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, USA	• Enzyme assay
University of Washington, Molecular Development Laboratory - Seattle, WA, USA	• Sequence analysis of the entire coding region

^* 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.