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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 692 | 388 |
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CASR - 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 Renal Tubular Disorders Panel Invitae United States | 68 | 39 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Invitae United States | 65 | 40 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae Progressive Renal Disease Panel Invitae United States | 310 | 195 |
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Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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CASR Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 4 | 1 |
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Fulgent Genetics United States | 354 | 209 |
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Fulgent Genetics United States | 509 | 275 |
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Adolescent/Adult Epilepsy NGS Panel Fulgent Genetics United States | 182 | 82 |
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Fulgent Genetics United States | 121 | 23 |
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Fulgent Genetics United States | 16 | 6 |
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Hypothyroidism and Resistance to Thyroid Hormone NGS Panel Fulgent Genetics United States | 41 | 19 |
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Abnormal Mineralization NGS Panel Fulgent Genetics United States | 77 | 30 |
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Fulgent Genetics United States | 39 | 27 |
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Epilepsy Advanced Sequencing and CNV Evaluation Athena Diagnostics United States | 233 | 234 |
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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.