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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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BICD2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
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Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy Type 2 via the BICD2 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Comprehensive Neuromuscular Panel PreventionGenetics, part of Exact Sciences United States | 183 | 142 |
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Comprehensive Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 82 | 71 |
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Invitae Hereditary Motor Neuropathy Panel Invitae United States | 60 | 26 |
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Invitae Comprehensive Neuropathies Panel Invitae United States | 201 | 96 |
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PreventionGenetics, part of Exact Sciences United States | 58 | 42 |
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Distal Hereditary Motor Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 30 | 22 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Predominantly distal muscular atrophy Genologica Medica Spain | 43 | 18 |
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Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain | 65 | 30 |
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Spinal muscular atrophy, lower extremity-predominant: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 3 | 2 |
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SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT Laboratorio de Genetica Clinica SL Spain | 2 | 2 |
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Hereditary Spastic Paraplegia NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 81 | 79 |
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Neuromuscular Disorders NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 233 | 144 |
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