| Laboratory |
Test Method |
Prenatal |
Carrier * |
| Baylor College of Medicine, Medical Genetics Laboratories - Houston, TX, USA | • Sequence analysis of the entire coding region
• Analyte
| |  |
| Centogene AG, Rare Disease Company - Rostock, Germany | • Sequence analysis of the entire coding region
• Analyte
| | |
| Denver Genetic Laboratories, University of Colorado, DNA Diagnostic Laboratory - Aurora, CO, USA | • Sequence analysis of the entire coding region
• Deletion/duplication analysis
| | |
| 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
| | |
| Hôpital Robert Debré, Biochimie Hormonologie - Paris, France | • Sequence analysis of the entire coding region
• Analyte
• Enzyme assay
| | |
| Karolinska University Hospital, Centre for Inherited Metabolic Diseases - Stockholm, Sweden | • Sequence analysis of the entire coding region
• Analyte
| | |
| Mayo Clinic - Minnesota, Molecular Genetics Laboratory - Rochester, MN, USA | • Sequence analysis of the entire coding region
| | |
| Mount Sinai School of Medicine, Mount Sinai Genetic Testing Laboratory-Biochemical Genetics - New York, NY, USA | • Analyte
| | |
| PreventionGenetics, Clinical DNA Testing and DNA Banking - Marshfield, WI, USA | • Sequence analysis of the entire coding region
• Deletion/duplication analysis
| | |
| 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
• Targeted mutation analysis
• Analyte
| | |
| VU University Medical Center, Metabolic Unit - Amsterdam, Netherlands | • Sequence analysis of the entire coding region
• Analyte
| | |
