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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Mayo Clinic Laboratories Mayo Clinic United States | 1 | 211 |
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Peripheral Neuropathy Gene Panel Mayo Clinic Laboratories Mayo Clinic United States | 1 | 186 |
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Motor and Sensory Neuropathy Panel Mayo Clinic Laboratories Mayo Clinic United States | 2 | 87 |
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CNTNAP1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Centogene AG - the Rare Disease Company Germany | 1886 | 1858 |
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Centogene AG - the Rare Disease Company Germany | 734 | 744 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Lethal Contracture Syndrome 7 via the CNTNAP1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Congenital contracture syndrome extended Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
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Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
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Congenital contracture syndrome extended NGS panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
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Congenital contracture syndrome extended Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 10 | 31 |
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Lethal congenital contracture syndrome and related disorders NGS Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
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Lethal congenital contracture syndrome and related disorders Comprehensive Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
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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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Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 202 | 212 |
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Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel HNL Genomics Connective Tissue Gene Tests United States | 13 | 22 |
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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.