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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics United States | 288 | 218 |
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OPA1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Comprehensive Deafness Panel Invitae United States | 405 | 219 |
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Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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Chronic Progressive External Ophthalmoplegia (CPEO/PEO) Panel PreventionGenetics, part of Exact Sciences United States | 30 | 13 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 106 | 83 |
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Invitae Comprehensive Neuromuscular Disorders Panel Invitae United States | 353 | 208 |
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PreventionGenetics, part of Exact Sciences United States | 17 | 16 |
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OPA1 Deletion/Duplication Analysis Baylor Genetics United States | 2 | 1 |
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OPA1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 2 | 1 |
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Baylor Genetics United States | 842 | 637 |
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PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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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.