Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Enzyme assay
CeGaT GmbH - Tuebingen, Germany	• Sequence analysis of the entire coding region
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	• Analyte • Enzyme assay
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte • Enzyme assay
Children's University Hospital, Human Genetics - Berne, Switzerland	• Sequence analysis of the entire coding region
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Edith Wolfson Medical Center, Molecular Genetics Laboratory - Holon, Israel	• Sequence analysis of the entire coding region
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	• 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	• Sequence analysis of the entire coding region
GGA - Galil Genetic Analysis - Kazerin, Israel	• Sequence analysis of the entire coding region
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Enzyme assay
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada	• Sequence analysis of the entire coding region • Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte • 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 • Deletion/duplication 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	• Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte • Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Sequence analysis of select exons • Analyte • Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Enzyme assay
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Shaare Zedek Medical Center, Medical Genetics Institute - Jerusalem, Israel	• Linkage analysis
Thomas Jefferson University, Lysosomal Diseases Testing Laboratory - Philadelphia, PA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte • Enzyme assay
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, 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.