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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
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Hirschsprung disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 5 | 4 |
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Rare Kidney Stone Consortium And The Mayo Clinic Hyperoxaluria Center Mayo Clinic United States | 21 | 170 |
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Non syndromic Hirschsprung Disease: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 10 |
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Syndromic Hirschsprung Disease: gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 28 |
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HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL (ONDINE SYNDROME) Laboratorio de Genetica Clinica SL Spain | 1 | 8 |
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Laboratorio de Genetica Clinica SL Spain | 6 | 6 |
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Hildebrandt Laboratory Boston Children's Hospital United States | 2 | 204 |
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Renal Dysplasia, Renal Agenesia, CAKUT Panel CeGaT GmbH Germany | 1 | 32 |
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Fulgent Genetics United States | 3 | 1 |
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Hirschsprung Disease NGS Panel Fulgent Genetics United States | 15 | 5 |
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Fulgent Genetics United States | 5128 | 4672 |
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Central Hypoventilation Syndrome NGS Panel Fulgent Genetics United States | 14 | 6 |
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Fulgent Genetics United States | 76 | 51 |
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Genome Diagnostics Laboratory University Medical Center Utrecht Netherlands | 1 | 1 |
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Hirschsprung disease research testing Aravinda Chakravarti Research Laboratory New York University School of Medicine United States | 25 | 10 |
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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.