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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
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ALDH18A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
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Invitae Connective Tissue Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 92 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Supplemental Metabolic Newborn Screening Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 253 | 189 |
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Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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PreventionGenetics, part of Exact Sciences United States | 66 | 63 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 75 | 72 |
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Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 257 | 191 |
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Invitae Hereditary Spastic Paraplegia Comprehensive Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 98 | 62 |
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ALDH18A1 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 4 | 1 |
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Connective Tissue Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 112 | 45 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 15 | 8 |
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Cutis laxa: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 12 | 9 |
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Fulgent Genetics United States | 42 | 16 |
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Hyperammonemia and Urea Cycle Disorder NGS Panel Fulgent Genetics United States | 70 | 56 |
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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.