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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Genetic Services Laboratory University of Chicago United States | 16 | 16 |
|
Joubert/Meckel-Gruber syndrome Panel Genetic Services Laboratory University of Chicago United States | 34 | 41 |
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Invitae Expanded Renal Disease Panel Invitae United States | 693 | 388 |
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TCTN2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
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Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 39 | 31 |
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Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 39 | 31 |
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Polydactyly and Syndactyly Panel PreventionGenetics, part of Exact Sciences United States | 320 | 231 |
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PreventionGenetics, part of Exact Sciences United States | 231 | 139 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Joubert syndrome and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 37 | 37 |
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Joubert syndrome and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 37 | 37 |
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Meckel-Gruber Syndrome / Joubert Syndrome via the TCTN2 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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PreventionGenetics, part of Exact Sciences United States | 135 | 133 |
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Joubert and Meckel-Gruber Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 43 | 38 |
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Fulgent Genetics United States | 505 | 132 |
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Fulgent Genetics United States | 533 | 149 |
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Congenital Heart Defect NGS Panel Fulgent Genetics United States | 377 | 114 |
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Fulgent Genetics 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.