| Laboratory |
Test Method |
Prenatal |
Carrier * |
| Alberta Children's Hospital, Molecular Diagnostic Laboratory - Calgary, Canada | • Targeted mutation analysis
|  |  |
| 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
|  |  |
| Biyolojik Bilimler Arastirma Gelistirme ve Uretim AS, Duzen Laboratuvarlar Grubu - Istanbul, Turkey | • Sequence analysis of the entire coding region
|  |  |
| Boston Children's Hospital, Genetics Diagnostic Laboratory - Waltham, MA, USA | • Sequence analysis of the entire coding region • Deletion/duplication analysis
| |  |
| Centogene AG, Rare Disease Company - Rostock, Germany | • Sequence analysis of the entire coding region • Analyte • Enzyme assay • Deletion/duplication analysis
|  |  |
| CGC Genetics - Porto, Portugal | • Targeted mutation analysis
|  |  |
| CGC Genetics USA, Cytogenetics and Molecular Diagnostics Lab - Newark, NJ, USA | • Targeted mutation analysis
|  |  |
| Children's Hospital of Philadelphia, Michael J. Palmieri Metabolic Disease Laboratory - Philadelphia, PA, USA | • Analyte • Enzyme assay
|  |  |
| Children's University Hospital, Human Genetics - Berne, Switzerland | • Mutation scanning of the entire coding region
|  |  |
| Diagenom GmbH, Medical Genetics Laboratory - Rostock, Germany | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  |  |
| Dr. Eberhard and Partner, MVZ Dortmund - Dortmund, Germany | • Sequence analysis of the entire coding region
| |  |
| Emory University School of Medicine, Emory Molecular Genetics Laboratory - Atlanta, GA, USA | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  |  |
| GENDA - Ciudad autonoma de Buenos Aires, Argentina | • Targeted mutation analysis
|  | |
| GeneDx - Gaithersburg, MD, USA | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  |  |
| Greenwood Genetic Center, Metabolic Laboratory - Greenwood, SC, USA | • Sequence analysis of the entire coding region • Analyte
|  |  |
| Hamilton Regional Laboratory Medicine Program, Molecular Diagnostic Genetics - Hamilton, Canada | • Sequence analysis of the entire coding region
|  |  |
| Health Care Center GENOMED, Laboratory of Human Genetics - Warsaw, Poland | • Targeted mutation analysis
|  |  |
| Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden | • Sequence analysis of the entire coding region • Analyte • Enzyme assay
|  |  |
| 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
|  |  |
| LabPLUS - Auckland City Hospital, Molecular Genetics Laboratory - Diagnostics Genetics - Auckland, New Zealand | • Sequence analysis of the entire coding region
| |  |
| Mayo Clinic - Minnesota, Biochemical Genetics Laboratory - Rochester, MN, USA | • Analyte • Enzyme assay • Protein analysis
| |  |
| Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA | • Sequence analysis of the entire coding region • Targeted mutation analysis
|  |  |
| MEDGEN, Genetic Diagnostics Laboratory - Warsaw, Poland | • Sequence analysis of select exons • Targeted mutation analysis
|  |  |
| Medgene, MedGene - Bratislava, Slovakia | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  | |
| New Jersey Medical School, Institute of Genomic Medicine - Newark, NJ, USA | • Targeted mutation analysis • Enzyme assay
| |  |
| New York State Institute for Basic Research in Developmental Disabilities, Biochemical Genetics - Staten Island, NY, USA | • Enzyme assay
| |  |
| PerkinElmer Genetics, Inc. - Bridgeville, PA, USA | • Targeted mutation analysis • Analyte • Enzyme assay
| |  |
| Praxis fuer Humangenetik Wien - Vienna, Austria | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  | |
| 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, Molecular Genetics Laboratory - San Juan Capistrano, CA, USA | • Targeted mutation analysis
|  |  |
| Seattle Children's Hospital, Biochemical and Molecular Genetics Laboratories - Seattle, WA, USA | • Targeted mutation analysis • Analyte • Enzyme assay
| |  |
| Sir Ganga Ram Hospital, Center of Medical Genetics - New Delhi, India | • Sequence analysis of the entire coding region • Targeted mutation analysis • Analyte • Enzyme assay
|  |  |
| Southmead Hospital - Pathology Sciences, Bristol Genetics Laboratory - North Bristol NHS Trust - Bristol, Great Britain | • Sequence analysis of the entire coding region • Deletion/duplication analysis
|  |  |
| Tor Vergata University of Roma, School of Medicine, Servizio di Genetica Medica - Rome, Italy | • Sequence analysis of the entire coding region
|  | |
| Tulane University School of Medicine, Hayward Genetics Center Molecular Diagnostics Laboratory - New Orleans, LA, USA | • Targeted mutation analysis
|  | |
| Tulane University School of Medicine, Tulane Biochemical Genetics Laboratory - New Orleans, LA, USA | • Enzyme assay
|  | |
| University Hospital Brno, Center of Molecular Biology and Gene Therapy - Brno, Czech Republic | • Sequence analysis of the entire coding region
|  |  |
| University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases - Amsterdam, Netherlands | • Sequence analysis of the entire coding region • Analyte • Enzyme assay
|  |  |
| 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 Oklahoma Health Sciences Center, Genetics Laboratory - Oklahoma City, OK, USA | • Sequence analysis of the entire coding region
|  |  |