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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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COL9A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Stickler Syndrome Panel Invitae United States | 32 | 9 |
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Multiple epiphyseal dysplasia (MED) NGS panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
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Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
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Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 33 | 10 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
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Spondylo-Epi-Metaphyseal dysplasias NGS panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Multiple epiphyseal dysplasia (MED) Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 7 |
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Multiple epiphyseal dysplasia (MED) NGS panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
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Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 8 | 8 |
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Comprehensive Vitreoretinopathy Panel PreventionGenetics, part of Exact Sciences United States | 26 | 21 |
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Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States | 29 | 10 |
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Multiple Epiphyseal Dysplasia and Stickler Syndrome, Autosomal Recessive via the COL9A1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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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.