Filters
Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Congenital Diarrhea and Enteropathies Panel PreventionGenetics, part of Exact Sciences United States | 241 | 157 |
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Ambry Genetics United States | 2 | 1 |
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Skeletal dysplasia extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
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Skeletal dysplasia core & extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
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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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Skeletal dysplasia core & extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
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Skeletal dysplasia extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
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Skeletal dysplasia core & extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 46 | 29 |
|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
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Skeletal dysplasia extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 26 | 19 |
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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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Shwachman-Diamond Syndrome via the SBDS Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Bone marrow failure syndrome panel. NGS panel of 122 genes. Genologica Medica Spain | 194 | 122 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Hereditary leukemia panel. NGS panel of 39 genes. Genologica Medica Spain | 89 | 39 |
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Metaphyseal dysplasia panel. NGS panel of 11 genes. Genologica Medica Spain | 42 | 11 |
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Congenital neutropenia panel. NGS panel of 26 genes. Genologica Medica Spain | 35 | 25 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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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.