Laboratory	Test Method	Prenatal	Carrier *
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Analyte • Deletion/duplication analysis
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
diagenos - Osnabrueck, Germany	• Sequence analysis of the entire coding region
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Analyte
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Medgene, MedGene - Bratislava, Slovakia	• Sequence analysis of the entire coding region
Medical Neurogenetics - Atlanta, GA, USA	• Sequence analysis of the entire coding region
Praxis fuer Humangenetik Wien - Vienna, Austria	• Sequence analysis of the entire coding region
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Analyte
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Sequence analysis of the entire coding region • Analyte
Universita degli Studi di Roma Tor Vergata, Population Genetics - Rome, Italy	• Sequence analysis of the entire coding region
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• Analyte
VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Analyte • Enzyme assay
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA	• Analyte

^* 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.