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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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SLC25A19 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Pyruvate Metabolism and Related Disorders Panel Invitae United States | 40 | 38 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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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 Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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Invitae Organic Acidemias Panel Invitae United States | 108 | 97 |
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Baylor Genetics United States | 842 | 637 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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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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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 67 | 48 |
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Thiamine-responsive dysfunction syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 4 |
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Fulgent Genetics United States | 163 | 75 |
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Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States | 416 | 235 |
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Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy Athena Diagnostics United States | 66 | 67 |
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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.