Laboratory	Test Method	Prenatal	Carrier *
Ambry Genetics Corp, Ambry Genetics - Aliso Viejo, CA, USA	• Sequence analysis of the entire coding region
ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA	• Analyte
ARUP Laboratories, Molecular Genetics Laboratory - Salt Lake City, UT, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte • Deletion/duplication analysis
Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA	• Analyte
Center for Human Genetics and Laboratory Medicine Martinsried, Molecular Genetics - Martinsried, Germany	• Sequence analysis of the entire coding region
Center for Human Genetics, Inc - Cambridge, MA, USA	• Targeted mutation analysis
Centogene AG, Rare Disease Company - Rostock, Germany	• Sequence analysis of the entire coding region • Analyte
Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France	• Sequence analysis of the entire coding region • Analyte
CGC Genetics - Porto, Portugal	• Targeted mutation analysis
Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA	• Analyte
Children's Mercy Hospital and Clinics, Molecular Genetics Laboratory - Kansas City, MO, USA	• Targeted mutation analysis
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
Department of Genetics UAB, Medical Genomics Laboratory - Birmingham, AL, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte
Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA	• Sequence analysis of the entire coding region • Sequence analysis of select exons
Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany	• Targeted mutation analysis
Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA	• Analyte
Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Deletion/duplication analysis
GeneDx - Gaithersburg, MD, USA	• Sequence analysis of the entire coding region • Sequence analysis of select exons • Targeted mutation analysis • 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	• Mutation scanning of select exons
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Sequence analysis of the entire coding region • Analyte
GSTS Pathology, DNA Laboratory - London, Great Britain	• Sequence analysis of the entire coding region
Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada	• Targeted mutation analysis
Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland	• Targeted mutation analysis
HUSLAB, Laboratory of Genetics - Helsinki, Finland	• Targeted mutation analysis
Indiana University Medical Center, School of Medicine, Indiana University Molecular Genetics Diagnostic Laboratory - Indianapolis, IN, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte
Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany	• Sequence analysis of the entire coding region
London Health Sciences Centre, Molecular Diagnostic Laboratory - London, Canada	• Targeted mutation analysis • Deletion/duplication analysis
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte
Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA	• Sequence analysis of the entire coding region
McGill University Health Centre, Molecular Genetics Laboratory - Montreal, Canada	• Targeted mutation analysis
MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland	• Targeted mutation analysis
Medical College of Wisconsin, Fatty Acid Oxidation Laboratory - Milwaukee, WI, USA	• Analyte • Enzyme assay • Protein analysis
Medical Neurogenetics - Atlanta, GA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis
Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA	• Analyte
Ohio State University, Molecular Pathology Laboratory - Columbus, OH, USA	• Targeted mutation analysis
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PerkinElmer Genetics, Inc. - Bridgeville, PA, USA	• Targeted mutation analysis • Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Pro Genetic, Inc, University Children's Genetics Laboratory - Glendale, CA, USA	• Targeted mutation analysis
Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA	• Analyte
Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA	• Targeted mutation analysis
Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte
Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain	• Sequence analysis of the entire coding region • Targeted mutation analysis • Enzyme assay
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Targeted mutation analysis
Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain	• Targeted mutation analysis • Deletion/duplication analysis
Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA	• Analyte
Synlab MVZ Humane Genetik Mnchen, Labor fr Humangenetik - München, Germany	• Sequence analysis of the entire coding region
Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain	• Sequence analysis of the entire coding region • Analyte
University Hospital Lausanne, DNA Diagnostic Laboratory - Service de Génétique Médicale - Lausanne, Switzerland	• Targeted mutation analysis
University of Alberta, Molecular Diagnostic Laboratory - Edmonton, Canada	• Targeted mutation analysis
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands	• Sequence analysis of the entire coding region • Analyte • Enzyme assay
University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA	• Targeted mutation analysis • Analyte
University of Miami Miller School of Medicine, Biochemical Genetics Diagnostic Laboratory - Miami, FL, USA	• Analyte
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA	• Analyte
University of Minnesota, University of Minnesota Physicians Outreach Laboratory - Minneapolis, MN, USA	• Targeted mutation analysis
University of North Carolina Hospitals, Molecular Genetics - Chapel Hill, NC, USA	• Targeted mutation analysis
University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA	• Sequence analysis of the entire coding region
Vanderbilt University Medical Center, Molecular Diagnostics Laboratory - Nashville, TN, USA	• Targeted mutation analysis
Washington University School of Medicine, Molecular Diagnostic Laboratory - St. Louis, MO, USA	• Targeted mutation analysis
Yale University School of Medicine, Biochemical Disease Detection Laboratory - New Haven, CT, USA	• Analyte
Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, USA	• Sequence analysis of the entire coding region • Targeted mutation analysis

^* 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.