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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Pure Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States | 31 | 36 |
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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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Generalized, Partial and Atypical Lipodystrophy Panel PreventionGenetics, part of Exact Sciences United States | 57 | 29 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 82 | 71 |
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Invitae Comprehensive Neuropathies Panel Invitae United States | 201 | 96 |
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Charcot-Marie-Tooth - Axonal Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 46 | 37 |
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Charcot-Marie-Tooth - Comprehensive Panel PreventionGenetics, part of Exact Sciences United States | 53 | 44 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States | 123 | 52 |
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Baylor Genetics United States | 842 | 637 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Neuro-Ophthalmic Disorders NGS Panel Fulgent Genetics United States | 52 | 26 |
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Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States | 563 | 241 |
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Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States | 185 | 53 |
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Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States | 416 | 235 |
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Asper Biogene Asper Biogene LLC Estonia | 89 | 74 |
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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.