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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
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ERCC8 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 971 | 680 |
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Invitae Cerebral Palsy Spectrum Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 638 | 419 |
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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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Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
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Myriad Genetics, Inc. United States | 1 | 1 |
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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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PreventionGenetics, part of Exact Sciences United States | 157 | 171 |
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Cockayne syndrome Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 2 |
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Cockayne syndrome Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 2 | 2 |
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Progeroid syndromes and related disorders Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 21 | 21 |
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HNL Genomics Connective Tissue Gene Tests United States | 2 | 2 |
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Progeroid syndromes and related disorders Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 21 | 21 |
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Progeroid syndromes and related disorders NGS panel HNL Genomics Connective Tissue Gene Tests United States | 21 | 21 |
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Leukodystrophy and Leukoencephalopathy Panel PreventionGenetics, part of Exact Sciences United States | 202 | 212 |
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Invitae Ectodermal Dysplasia and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 148 | 73 |
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Cockayne Syndrome via the ERCC8 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Chromosomal Instability Syndromes Panel PreventionGenetics, part of Exact Sciences United States | 10 | 8 |
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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.