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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Health in Code Spain | 71 | 35 |
|
Centogene AG - the Rare Disease Company Germany | 316 | 314 |
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GORAB - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Connective Tissue and Related Disorder Panel Centogene AG - the Rare Disease Company Germany | 75 | 76 |
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Centogene AG - the Rare Disease Company Germany | 95 | 95 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Connective Tissue Disorders Panel Invitae United States | 195 | 92 |
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Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 110 | 50 |
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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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Invitae Osteogenesis Imperfecta and Bone Fragility Panel Invitae United States | 120 | 65 |
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Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Geroderma Osteodysplasticum (GO) via the GORAB Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Progeria panel. 17-gene NGS panel. Genologica Medica Spain | 48 | 17 |
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Skin laxa panel. NGS panel of 10 genes. Genologica Medica Spain | 20 | 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.