| Laboratory |
Test Method |
Prenatal |
Carrier * |
| 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 • Deletion/duplication analysis
|  |  |
| Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA | • Sequence analysis of the entire coding region • Analyte • Enzyme assay • Deletion/duplication analysis
|  |  |
| Centogene AG, Rare Disease Company - Rostock, Germany | • Sequence analysis of the entire coding region • Analyte • Deletion/duplication analysis
|  | |
| Centre de Biologie Est - Hospices Civils de Lyon, Maladies hrditaires du mtabolisme - Bron cedex, France | • Sequence analysis of the entire coding region • Analyte
|  |  |
| Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA | • Analyte
|  |  |
| Children's National Medical Center, Biochemical Genetics and Metabolism Laboratory - Washington, DC, USA | • Mutation scanning of the entire coding region • Enzyme assay
|  |  |
| Denver Genetic Laboratories, UCD Biochemical Genetics Laboratory - Aurora, CO, USA | • Analyte
|  |  |
| Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA | • Analyte
|  |  |
| 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 | • 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
|  |  |
| 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 | • Analyte
| |  |
| Greenwood Genetic Center, Molecular Diagnostic Laboratory - Greenwood, SC, USA | • Sequence analysis of the entire coding region
|  |  |
| IPATIMUP, Population Genetics - Porto, Portugal | • Sequence analysis of the entire coding region • Mutation scanning of the entire coding region • Linkage analysis
| |  |
| Klinikum Stuttgart, Institute of Clinical Genetics - Stuttgart, Germany | • Sequence analysis of the entire coding region
| |  |
| Laboratory for Molecular Diagnostics, Labor-MVZ Westmecklenburg - Schwerin, Germany | • Sequence analysis of the entire coding region • Deletion/duplication analysis
| |  |
| Leiden University Medical Center, Laboratory for Diagnostic Genome Analysis - Leiden, Netherlands | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  |  |
| Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA | • Analyte
|  |  |
| Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA | • Analyte
|  |  |
| National Health Laboratory Services, Inherited Metabolic Diseases - Cape Town, South Africa | • Sequence analysis of the entire coding region
|  |  |
| New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA | • Analyte
|  |  |
| Oregon Health and Science University, Knight Diagnostic Laboratories - Biochemical Genetics Laboratory - Portland, OR, USA | • Analyte
|  |  |
| PerkinElmer, Signature Genomic Laboratories - Spokane, WA, USA | • FISH-metaphase
|  | |
| PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  |  |
| Quest Diagnostics Nichols Institute - California, Biochemical Genetics Laboratory - San Juan Capistrano, CA, USA | • Analyte
|  |  |
| Samsung Medical Center, Department of Laboratory Medicine and Genetics - Seoul, South Korea | • Sequence analysis of the entire coding region • Analyte
|  |  |
| Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA | • Analyte
|  |  |
| Seoul National University Hospital, Molecular Diagnostics Laboratory - Seoul, South Korea | • Sequence analysis of the entire coding region
|  |  |
| Sheffield Children's NHS Foundation Trust, Sheffield Diagnostic Genetics Service - Sheffield, Great Britain | • Sequence analysis of the entire coding region • 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 • Deletion/duplication analysis
|  |  |
| University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA | • Analyte
|  |  |
| University of California San Diego, Biochemical Genetics Laboratory - La Jolla, CA, USA | • Analyte
|  |  |
| University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA | • Analyte
|  |  |
| University of Michigan, Michigan Medical Genetics Laboratories - Ann Arbor, MI, USA | • Sequence analysis of the entire coding region • Analyte
| |  |
| Yale University School of Medicine, DNA Diagnostics Laboratory - New Haven, CT, USA | • Sequence analysis of the entire coding region • Linkage analysis
|  | |