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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
|
SLC4A1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 11 | 1 |
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Invitae Red Blood Cell Membrane Disorders and Enzymopathies Panel Invitae United States | 57 | 28 |
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Invitae Renal Tubular Disorders Panel Invitae United States | 68 | 39 |
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Invitae Hereditary Hemolytic Anemia Panel Invitae United States | 74 | 39 |
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Nephrolithiasis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 32 | 31 |
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Nephrolithiasis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 32 | 31 |
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Nephrolithiasis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 32 | 31 |
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Invitae United States | 66 | 40 |
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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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Hereditary Hemolytic Anemia Panel PreventionGenetics, part of Exact Sciences United States | 44 | 34 |
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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 Hospital United States | 527 | 338 |
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Nephrolithiasis and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 32 | 31 |
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Nephrolithiasis and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 32 | 31 |
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Nephrolithiasis and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 32 | 31 |
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Nephrolithiasis and Nephrocalcinosis Panel PreventionGenetics, part of Exact Sciences United States | 33 | 30 |
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Distal Renal Tubular Acidosis Panel PreventionGenetics, part of Exact Sciences United States | 5 | 4 |
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Hereditary Spherocytosis via the SLC4A1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 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.