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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
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TSEN2 - 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 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany | 451 | 452 |
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Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Brain Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 247 | 161 |
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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 |
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PreventionGenetics, part of Exact Sciences United States | 79 | 52 |
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Pontocerebellar Hypoplasia Panel PreventionGenetics, part of Exact Sciences United States | 14 | 12 |
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Pontocerebellar Hypoplasia via the TSEN2 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
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Microcephaly and cerebellar hypoplasia panel. 48-gene NGS panel. Genologica Medica Spain | 63 | 48 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center Netherlands | 1 | 1 |
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Brain Malformations Panel, Comprehensive CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 111 | 56 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 67 | 48 |
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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.