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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 243 | 238 |
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CUL7 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 777 | 770 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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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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PreventionGenetics United States | 156 | 73 |
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Three M syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 3 |
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Three M syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 3 | 3 |
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HNL Genomics Connective Tissue Gene Tests United States | 3 | 3 |
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3-M Syndrome via the CUL7 Gene PreventionGenetics United States | 1 | 1 |
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Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain | 258 | 111 |
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3M syndrome / primordial dwarfism panel. NGS panel of 24 genes. Genologica Medica Spain | 33 | 24 |
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Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 82 | 60 |
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Fulgent Genetics United States | 21 | 16 |
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Fulgent Genetics United States | 62 | 7 |
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3M Syndrome , Panel Massive Sequencing (NGS) CUL7, OBSL1, CCDC8 Genes Reference Laboratory Genetics Spain | 3 | 3 |
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3M Syndrome , Sequencing CUL7 Gene Reference Laboratory Genetics Spain | 1 | 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.