| Laboratory |
Test Method |
Prenatal |
Carrier * |
| ARUP Laboratories, Biochemical Genetics Laboratory - Salt Lake City, UT, USA | • Analyte • Enzyme assay
| | |
| 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 • Analyte • Enzyme assay • Deletion/duplication analysis
| |  |
| Baylor Research Institute, Institute of Metabolic Disease - Dallas, TX, USA | • Analyte
| |  |
| Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey | • Targeted mutation analysis
|  | |
| Centogene AG, Rare Disease Company - Rostock, Germany | • Sequence analysis of the entire coding region • Analyte
|  |  |
| CGC Genetics - Porto, Portugal | • 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 • Deletion/duplication analysis
|  |  |
| Detroit Medical Center University Laboratories, Molecular Genetics Diagnostic Laboratory - Detroit, MI, USA | • Sequence analysis of the entire coding region
| |  |
| Duke University Health System, Pediatric Biochemical Genetics Lab - Durham, NC, USA | • Analyte
| |  |
| Emory University School of Medicine, Emory Biochemical Genetics Laboratory - Atlanta, GA, USA | • Enzyme assay
| |  |
| 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
| |  |
| Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA | • Sequence analysis of the entire coding region • Enzyme assay
| |  |
| Henry Ford Hospital, DNA Diagnostic Laboratory - Detroit, MI, USA | • Sequence analysis of the entire coding region
| |  |
| Intergen Genetics Centre - Ankara, Turkey | • Sequence analysis of select exons
| |  |
| Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden | • Sequence analysis of the entire coding region • Analyte • Enzyme assay
| |  |
| Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA | • Analyte • Enzyme assay
| |  |
| Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA | • Sequence analysis of the entire coding region
|  |  |
| MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland | • Sequence analysis of select exons
| |  |
| 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 • Enzyme assay
| |  |
| 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 | • Enzyme assay
|  |  |
| Quest Diagnostics Nichols Institute - California, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA | • Sequence analysis of the entire coding region • Analyte
| |  |
| Sandor Proteomics Pvt. Ltd - Hyderabad, India | • Enzyme assay
| |  |
| Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA | • Enzyme assay
| |  |
| Stanford Clinical Laboratories, Biochemical Genetics Laboratory - Palo Alto, CA, USA | • Enzyme assay
| |  |
| Stanford Clinical Laboratories, Molecular Pathology Laboratory - Palo Alto, CA, USA | • Sequence analysis of the entire coding region • Enzyme assay
|  | |
| Tulane University School of Medicine, Tulane Biochemical Genetics Laboratory - New Orleans, LA, USA | • Enzyme assay
|  | |
| Universidad Autonoma de Madrid, Centro de Diagnostico de Enfermedades Moleculares - Madrid, Spain | • Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte • Enzyme assay
|  |  |
| University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands | • Sequence analysis of the entire coding region
|  |  |
| University of Alabama Birmingham, Biochemical Genetics Laboratory - Birmingham, AL, USA | • Analyte
|  |  |
| University of Maryland, Pediatric Biochemical Genetics Laboratory - Baltimore, MD, USA | • Enzyme assay
|  |  |
| 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 • Enzyme assay
|  |  |
| University of Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA | • Sequence analysis of the entire coding region
|  |  |