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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
RSPH4A - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 323 | 329 |
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Centogene AG - the Rare Disease Company Germany | 498 | 498 |
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Centogene AG - the Rare Disease Company Germany | 499 | 499 |
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Centogene AG - the Rare Disease Company Germany | 99 | 101 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
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Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 44 | 50 |
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Invitae Primary Ciliary Dyskinesia Panel Invitae United States | 49 | 37 |
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Primary Ciliary Dyskinesia (PCD) via the RSPH4A Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 135 | 133 |
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Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Panel PreventionGenetics, part of Exact Sciences United States | 44 | 51 |
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RSPH4A Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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Primary Ciliary Dyskinesia NGS Panel Fulgent Genetics United States | 55 | 38 |
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Ambry Genetics United States | 30 | 21 |
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Comprehensive Pulmonary-Vascular Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 100 | 86 |
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Primary Ciliary Dyskinesia Panel Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 42 | 42 |
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Invitae Congenital Heart Defects and Heterotaxy Panel Invitae United States | 128 | 82 |
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