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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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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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TMPRSS3 Gene Deafness, autosomal recessive type 8/10 NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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Institute for Genomic Medicine (IGM) Clinical Laboratory Nationwide Children's Hospital United States | 4 | 1 |
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Lysosomal Diseases Testing Laboratory Thomas Jefferson University United States | 58 | 18 |
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Institute of Human Genetics Foundation for Research in Genetics and Endocrinology India | 4 | 1 |
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Lysosomal Storage Disease Panel Molecular Genetics Laboratory London Health Sciences Centre Canada | 77 | 50 |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 3 | 1 |
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Invitae Neurodevelopmental Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 404 | 241 |
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Invitae Comprehensive Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 351 | 249 |
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Non-Immune Hydrops Fetalis Panel PreventionGenetics, part of Exact Sciences United States | 291 | 148 |
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Lysosomal Storage Disorders Panel PreventionGenetics, part of Exact Sciences United States | 242 | 146 |
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Invitae Broad Carrier Screen without X-linked Disorders Labcorp Genetics (formerly Invitae) LabCorp United States | 195 | 98 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 224 | 112 |
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Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 171 | 137 |
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Invitae Treatable Neurometabolic Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 257 | 191 |
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Invitae Comprehensive Lysosomal Storage Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 87 | 57 |
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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.