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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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ZMPSTE24 Gene Mandibuloacral dysplasia with type B lipodystrophy NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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ITPR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Neurodevelopmental Disorders Panel Invitae United States | 404 | 241 |
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PreventionGenetics, part of Exact Sciences United States | 61 | 36 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Invitae United States | 638 | 419 |
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Hereditary Spastic Paraplegia Comprehensive Panel PreventionGenetics, part of Exact Sciences United States | 87 | 106 |
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Pure Hereditary Spastic Paraplegia Panel PreventionGenetics, part of Exact Sciences United States | 31 | 36 |
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Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States | 170 | 99 |
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Genetic Services Laboratory University of Chicago United States | 288 | 480 |
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Invitae Microphthalmia, Anophthalmia, Coloboma (MAC) and Anterior Segment Dysgenesis Panel Invitae United States | 130 | 81 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 3 | 1 |
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Hereditary ataxias. NGS panel of 139 genes. Genologica Medica Spain | 220 | 139 |
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Ataxia panel. NGS panel of 157 genes. Genologica Medica Spain | 247 | 156 |
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Spinocerebellar ataxia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 38 | 37 |
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Fulgent Genetics United States | 505 | 132 |
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Fulgent Genetics United States | 133 | 56 |
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Fulgent Genetics United States | 533 | 149 |
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Spinocerebellar Ataxia Type 15: gene deletion/duplication 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.