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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
PLEKHG5 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Charcot-Marie-Tooth disease Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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Charcot-Marie-Tooth disease NGS panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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Charcot-Marie-Tooth disease Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 50 | 43 |
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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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Charcot-Marie-Tooth - Axonal Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 46 | 37 |
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Charcot-Marie-Tooth - Comprehensive Panel PreventionGenetics, part of Exact Sciences United States | 53 | 44 |
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Charcot-Marie-Tooth - Demyelinating Neuropathy Panel PreventionGenetics, part of Exact Sciences United States | 34 | 24 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States | 123 | 52 |
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Spinal muscular atrophy panel. 30-gene NGS panel. Genologica Medica Spain | 65 | 30 |
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Charcot-Marie-Tooth disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 67 | 54 |
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Charcot-Marie-Tooth Hereditary Neuropathy NGS Panel Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center United States | 76 | 54 |
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Spinal Muscular Atrophy NGS Panel Fulgent Genetics United States | 93 | 29 |
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Paroxysmal Extreme Pain Disorder NGS Panel Fulgent Genetics United States | 185 | 53 |
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Muscle Polyneuropathies , Panel Massive Sequencing (NGS) 111 Genes Reference Laboratory Genetics Spain | 159 | 111 |
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