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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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Dyslipidemia and early atherosclerosis panel. 84-gene NGS panel. Genologica Medica Spain | 133 | 84 |
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Nephrotic syndrome panel. 36-gene NGS panel. Genologica Medica Spain | 49 | 36 |
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Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 52 |
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Coenzyme Q10 deficiency panel. NGS panel of 15 genes. Genologica Medica Spain | 13 | 15 |
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General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
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Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
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Mitochondrial Panel, Nuclear genes CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 145 | 134 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Fulgent Genetics United States | 354 | 209 |
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Comprehensive Glomerular Proteinuria NGS Panel Fulgent Genetics United States | 182 | 76 |
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Fulgent Genetics United States | 509 | 275 |
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Fulgent Genetics United States | 505 | 132 |
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Coenzyme Q10 Deficiency NGS Panel Fulgent Genetics United States | 33 | 15 |
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Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States | 416 | 235 |
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Fulgent Genetics United States | 533 | 149 |
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Multiple System Atrophy (Cerebellar Type) , Sequencing COQ2 Gene Reference Laboratory Genetics Spain | 1 | 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.