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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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ABCB7 - 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 | 406 | 414 |
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Ataxia / Spastic Paraplegia Comprehensive Panel Centogene AG - the Rare Disease Company Germany | 451 | 452 |
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Ataxia / Spastic Paraplegia Panel Centogene AG - the Rare Disease Company Germany | 442 | 443 |
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Bone Marrow Failure / Anemia Panel Centogene AG - the Rare Disease Company Germany | 212 | 212 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 755 | 562 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Iron Related Disorders Panel Invitae United States | 39 | 27 |
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Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
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Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 138 | 85 |
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Baylor Genetics United States | 842 | 637 |
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X-chromosome High Resolution microarray analysis Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center United States | 240 | 171 |
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ABCB7 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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Fulgent Genetics United States | 505 | 132 |
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X-Linked Sideroblastic Anemia And Ataxia (ABCB7 Single Gene Test) Fulgent Genetics United States | 1 | 1 |
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Oxidative Phosphorylation Disorders NGS Panel Fulgent Genetics United States | 416 | 235 |
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Fulgent Genetics United States | 533 | 149 |
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Congenital Sideroblastic Anemia NGS Panel Fulgent Genetics United States | 24 | 8 |
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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.