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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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TH Gene Segawa syndrome, autosomal recessive NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
|
OGDH Gene Alpha-ketoglutarate dehydrogenase deficiency NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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Genomic Unity® Nuclear Encoded Mitochondrial Gene Analysis Variantyx, Inc. United States | 1 | 335 |
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Nuclear Mitochondrial Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 221 |
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Combined mtDNA+Nuclear Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 12 | 221 |
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OGDH - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
|
Centogene AG - the Rare Disease Company Germany | 406 | 414 |
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Invitae Nuclear Mitochondrial Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 394 | 319 |
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Congenital Lactic Acidosis Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 65 |
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PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
|
qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 369 |
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OGDH - Alpha-ketoglutarate dehydrogenase deficiency Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
|
Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 108 | 97 |
|
HEREDITARY ATAXIAS EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 1202 |
|
MITOCHONDRIAL DISEASES PANEL (NUCLEAR GENES) Laboratorio de Genetica Clinica SL Spain | 1 | 1372 |
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Alpha-ketoglutarate dehydrogenase deficiency: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 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.