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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
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FREM1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Centogene AG - the Rare Disease Company Germany | 498 | 498 |
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Centogene AG - the Rare Disease Company Germany | 417 | 413 |
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Centogene AG - the Rare Disease Company Germany | 499 | 499 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Congenital Anomalies of the Gastrointestinal Tract Panel PreventionGenetics, part of Exact Sciences United States | 297 | 180 |
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Congenital Diaphragmatic Hernia Panel PreventionGenetics, part of Exact Sciences United States | 116 | 65 |
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
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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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PreventionGenetics, part of Exact Sciences United States | 220 | 128 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 110 | 45 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
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Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain | 113 | 37 |
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Renal malformation panel. NGS panel of 22 genes. Genologica Medica Spain | 44 | 22 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Bifid nose with or without anorectal and renal anomalies: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
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Fulgent Genetics United States | 43 | 15 |
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Manitoba Oculotrichoanal Syndrome (FREM1 Single Gene Test) Fulgent Genetics United States | 3 | 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.