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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 691 | 388 |
|
WDR19 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 5 | 1 |
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Invitae Nephronophthisis Panel Invitae United States | 54 | 27 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Invitae Cystic Kidney Disease Panel Invitae United States | 96 | 44 |
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PreventionGenetics, part of Exact Sciences United States | 230 | 139 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 63 | 23 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 110 | 45 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 524 | 338 |
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Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
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Skeletal dysplasia and skeletal ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
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Skeletal dysplasia and skeletal ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 52 | 53 |
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Skeletal dysplasia ciliopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
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Skeletal dysplasia ciliopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
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Skeletal dysplasia ciliopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 20 | 19 |
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HNL Genomics Connective Tissue Gene Tests United States | 31 | 26 |
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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.