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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
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HTRA2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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Invitae Nuclear Mitochondrial Disorders Panel Invitae United States | 394 | 319 |
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Invitae Phagocytic Disorders Including Neutropenia Panel Invitae United States | 92 | 68 |
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Mitochondrial Disorders Panel (Nuclear Genes Only) PreventionGenetics, part of Exact Sciences United States | 292 | 253 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Parkinson Disease and Parkinsonism Panel PreventionGenetics, part of Exact Sciences United States | 68 | 70 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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PreventionGenetics, part of Exact Sciences United States | 27 | 24 |
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Invitae Metabolic Newborn Screening Confirmation Panel Invitae United States | 201 | 158 |
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Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 137 | 85 |
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Invitae United States | 17 | 15 |
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Invitae Organic Acidemias Panel Invitae United States | 108 | 97 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Parkinson disease 13 (PARK13, sequence analysis of HTRA2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Mitochondrial genome sequencing Molecular Vision Laboratory United States | 526 | 339 |
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Parkinson Disease: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 20 | 24 |
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Asper Biogene Asper Biogene LLC Estonia | 42 | 30 |
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CeGaT GmbH Germany | 42 | 48 |
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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.