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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 692 | 388 |
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SIX1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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 | 499 | 499 |
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Centogene AG - the Rare Disease Company Germany | 203 | 194 |
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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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Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
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Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Panel PreventionGenetics, part of Exact Sciences United States | 82 | 77 |
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Branchiootorenal Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 3 | 3 |
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Branchiootorenal Syndrome via the SIX1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain | 146 | 94 |
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Branchial-Oto-Renal Syndrome Panel. Panel NGS genes: EYA1, SIX1, SIX5, TFAP2A. Genologica Medica Spain | 7 | 4 |
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Renal malformation panel. NGS panel of 22 genes. Genologica Medica Spain | 44 | 22 |
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Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
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Hearing Loss, Comprehensive Panel CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 142 | 84 |
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Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 48 | 48 |
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Branchio-oto-renal (BOR) syndrome Al Jalila Children's Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 3 | 3 |
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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.