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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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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Holocarboxylase synthetase deficiency (deletion/duplication analysis on HLCS gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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MLPH - 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 | 734 | 744 |
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Centogene AG - the Rare Disease Company Germany | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 417 | 413 |
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Centogene AG - the Rare Disease Company Germany | 157 | 151 |
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Invitae Oculocutaneous Albinism Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 28 | 22 |
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Invitae Hypopigmentation Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 83 | 46 |
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Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
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Oculocutaneous Albinism and Hypopigmentation Panel PreventionGenetics, part of Exact Sciences United States | 24 | 31 |
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MLPH 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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Griscelli syndrome: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 3 | 3 |
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Comprehensive Primary Immunodeficiency NGS Panel Fulgent Genetics United States | 1048 | 472 |
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Genetic disorders with abnormal pigmentation Panel CeGaT GmbH Germany | 29 | 32 |
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Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Molecular Vision Laboratory United States | 45 | 29 |
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Genetic Services Laboratory University of Chicago United States | 9 | 21 |
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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.