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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
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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Centogene AG - the Rare Disease Company Germany | 243 | 238 |
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RBBP8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 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 | 777 | 770 |
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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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Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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Invitae Microcephalic Primordial Dwarfism and Seckel Syndrome Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 48 | 38 |
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Invitae Skeletal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 624 | 349 |
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Pancreatic carcinoma, somatic (RBBP8 gene) (Sequence Analysis-All Coding Exons) (Postnatal) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 156 | 73 |
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Seckel syndrome panel. 6-gene NGS panel. Genologica Medica Spain | 10 | 6 |
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3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain | 33 | 24 |
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CNH Molecular Diagnostics Laboratory Childrens National Hospital United States | 67 | 48 |
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Fulgent Genetics United States | 21 | 16 |
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3-M Syndrome / Primordial Dwarfism Panel Blueprint Genetics Finland | 8 | 24 |
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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.