Laboratory	Test Method	Prenatal	Carrier *
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• 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 • Analyte • Enzyme assay • Deletion/duplication analysis
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
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region
Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA	• Analyte
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
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Enzyme assay
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Lysosomal Storage Diseases - New York, NY, USA	• Enzyme assay
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	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Ruhr University, Human Genetics - Bochum, Germany	• Sequence analysis of the entire coding region
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Enzyme assay
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• 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
St James's University Hospital, Leeds Teaching Hospitals, Yorkshire Regional DNA Laboratory - Leeds, Great Britain	• Sequence analysis of the entire coding region
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 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.