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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
PlateletGenex Functional Defect Panel (31 genes) (2 Day STAT TAT) Machaon Diagnostics United States | 26 | 31 |
|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
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VIPAS39 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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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 | 325 | 316 |
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Centogene AG - the Rare Disease Company Germany | 110 | 112 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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PreventionGenetics, part of Exact Sciences United States | 130 | 69 |
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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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Platelet Function Disorder Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 40 | 41 |
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Inherited Thrombocytopenia Panel Versiti Diagnostic Laboratories Versiti, Inc United States | 40 | 42 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 527 | 338 |
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Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) Syndrome via the VIPAS39 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 1 | 1 |
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Cholestasis panel. NGS panel of 46 genes. Genologica Medica Spain | 88 | 46 |
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Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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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.