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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 79 | 54 |
|
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 |
|
Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
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Multiple Epiphyseal Dysplasia Panel PreventionGenetics, part of Exact Sciences United States | 29 | 10 |
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SLC26A2-Related Disorders via the SLC26A2 Gene PreventionGenetics, part of Exact Sciences United States | 4 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States | 292 | 746 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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Integrated Genetics Westborough LabCorp United States | 292 | 597 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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Integrated Genetics Westborough LabCorp United States | 172 | 350 |
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Integrated Genetics Westborough LabCorp United States | 287 | 578 |
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Inheritest High Frequency panel Integrated Genetics Westborough LabCorp United States | 109 | 110 |
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Integrated Genetics Westborough LabCorp United States | 115 | 142 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Epiphyseal dysplasia, multiple: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 7 | 7 |
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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.