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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
PTH1R - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 1 |
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Invitae Hypoparathyroidism Panel Invitae United States | 41 | 18 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 50 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Eiken syndrome Comprehensive test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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Eiken syndrome Deletion / Duplication test HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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HNL Genomics Connective Tissue Gene Tests United States | 1 | 1 |
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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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Invitae Ectodermal Dysplasia and Related Disorders Panel Invitae United States | 148 | 73 |
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Amsterdam UMC Genome Diagnostics Amsterdam University Medical Center, Location AMC Netherlands | 4 | 1 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
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Osteoporosis and bone dysplasia panel. 25-gene NGS panel. Genologica Medica Spain | 56 | 25 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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Metaphyseal dysplasia panel. NGS panel of 11 genes. Genologica Medica Spain | 42 | 11 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Metaphyseal Dysplasia NGS Panel Fulgent Genetics United States | 37 | 10 |
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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.