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
Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA	• Sequence analysis of the entire coding region
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 University Hospital, Human Genetics - Berne, Switzerland	• Mutation scanning of the entire coding region
Cincinnati Children's Hospital Medical Center, Molecular Genetics Laboratory - Cincinnati, OH, USA	• Sequence analysis of the entire coding region
Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA	• Analyte
Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany	• Sequence analysis of the entire coding region • Deletion/duplication analysis
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
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
Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA	• Sequence analysis of the entire coding region • Analyte • Enzyme assay • Deletion/duplication analysis
Hospital for Sick Children, Molecular Genetics Laboratory - Toronto, Canada	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden	• Analyte • Enzyme assay
Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Manchester St Mary's Hospital, Regional Genetics Laboratories - Manchester, Great Britain	• Sequence analysis of the entire coding region • Enzyme assay
Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA	• Analyte • Enzyme assay
Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA	• Analyte
PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA	• Sequence analysis of the entire coding region • Deletion/duplication analysis
SA Pathology - Women's and Children's Hospital, National Referral Laboratory - North Adelaide, Australia	• Sequence analysis of the entire coding region • Analyte • Enzyme assay • Deletion/duplication analysis
Sahlgrenska University Hospital, Clinical Neurochemistry Laboratory - Mölndal, Sweden	• Analyte • Enzyme assay
Sandor Proteomics Pvt. Ltd - Hyderabad, India	• Enzyme assay
Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea	• Sequence analysis of the entire coding region • Deletion/duplication analysis
Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India	• Sequence analysis of the entire coding region • Linkage analysis • Enzyme assay
University of Alabama Birmingham, Metabolic Disease Laboratory - Birmingham, AL, USA	• Analyte • Enzyme assay
University of Illinois Medical Center - Chicago, Biochemical Genetics Laboratory - Chicago, IL, USA	• Analyte • Enzyme assay
University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, 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.