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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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MTHFR - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Centogene AG - the Rare Disease Company Germany | 406 | 414 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Stroke, Cerebral Hemorrhage, Hemiplegia, and Migraine Panel PreventionGenetics, part of Exact Sciences United States | 346 | 160 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States | 297 | 180 |
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Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
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Invitae Mendelian Disorders with Psychiatric Symptoms Panel Invitae United States | 247 | 163 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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Invitae Methylmalonic Acidemia and Homocystinuria Panel Invitae United States | 29 | 29 |
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Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
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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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Comprehensive Epilepsy Panel, Sequencing and Deletion/Duplication ARUP Laboratories, Molecular Genetics and Genomics ARUP Laboratories United States | 234 | 240 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Proteus Syndrome (AKT1 Single Gene Test) Fulgent Genetics United States | 5 | 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.