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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 30 | 18 |
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TINF2 - 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 | 755 | 562 |
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Invitae Telomere Biology Disorders Panel Invitae United States | 22 | 13 |
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Invitae Surfactant Metabolism Panel Invitae United States | 40 | 19 |
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Invitae Hypopigmentation Panel Invitae United States | 83 | 46 |
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Invitae Neonatal Respiratory Distress Panel Invitae United States | 163 | 111 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 250 | 155 |
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Inherited Bone Marrow Failure Panel PreventionGenetics, part of Exact Sciences United States | 267 | 186 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 163 | 128 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 24 | 15 |
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Skin and Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 125 | 69 |
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Ambry Genetics United States | 12 | 7 |
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Invitae United States | 177 | 130 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Invitae Bone Marrow Failure Syndromes Panel Invitae United States | 138 | 85 |
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Dyskeratosis Congenita (DC) and Revesz Syndrome via the TINF2 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Interstitial lung disease panel. 25-gene NGS panel. Genologica Medica Spain | 40 | 25 |
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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.