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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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Molecular Vision Laboratory United States | 1358 | 1028 |
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NEK8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae United States | 210 | 134 |
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Invitae Cystic Kidney Disease Panel Invitae United States | 96 | 44 |
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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 | 527 | 338 |
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Nephronoptysis panel. NGS panel of 20 genes. Genologica Medica Spain | 42 | 20 |
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Ciliopathy panel. NGS panel of 99 genes. Genologica Medica Spain | 152 | 97 |
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Congenital liver fibrosis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 50 |
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Renal-hepatic-pancreatic dysplasia 2 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
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NEK8 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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Asper Biogene Asper Biogene LLC Estonia | 44 | 20 |
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Asper Biogene Asper Biogene LLC Estonia | 166 | 120 |
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Renal-hepatic-pancreatic dysplasia: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
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Congenital Heart Defect NGS Panel Fulgent Genetics United States | 377 | 114 |
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Invitae Congenital Heart Defects and Heterotaxy Panel Invitae United States | 128 | 82 |
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Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 156 | 114 |
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Fulgent Genetics United States | 2 | 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.