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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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ITPR1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 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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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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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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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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Top 99 Genetic Causes of Developmental Delay Panel PreventionGenetics, part of Exact Sciences United States | 170 | 99 |
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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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Congenital Hypotonia Xpanded Panel GeneDx United States | 10 | 1423 |
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Aniridia (PAX6 Single Gene Test) Fulgent Genetics United States | 8 | 1 |
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Congenital Cataracts NGS Panel Fulgent Genetics United States | 106 | 56 |
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Fulgent Genetics United States | 47 | 24 |
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