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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
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Invitae Comprehensive Neurometabolic Disorders Panel Invitae United States | 351 | 249 |
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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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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Hereditary Hearing Loss and Deafness Panel PreventionGenetics, part of Exact Sciences United States | 360 | 222 |
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Invitae Treatable Neurometabolic Disorders Panel Invitae United States | 257 | 191 |
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Invitae Purine Metabolism Disorders Panel Invitae United States | 26 | 18 |
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Quantitative Genomic Medicine Laboratories, SL Spain | 328 | 300 |
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Invitae Comprehensive Neuropathies Panel Invitae United States | 201 | 96 |
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X-Linked Intellectual Disability Panel PreventionGenetics, part of Exact Sciences United States | 191 | 141 |
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PRPS1-Related Disorders via the PRPS1 Gene PreventionGenetics, part of Exact Sciences United States | 4 | 1 |
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Invitae Charcot-Marie Tooth Disease Comprehensive Panel Invitae United States | 123 | 52 |
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Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States | 218 | 300 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 4 | 1 |
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Genologica Medica Spain | 6 | 3 |
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Non-syndromic hearing loss panel. 95-gene NGS panel. Genologica Medica Spain | 146 | 94 |
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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.