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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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Fanconi anemia (NGS panel for 22 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 22 |
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GLE1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins University, School of Medicine United States | 480 | 254 |
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Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
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Fetal Akinesia Deformation Sequence/Lethal Multiple Pterygium Syndrome Panel PreventionGenetics, part of Exact Sciences United States | 7 | 11 |
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GLE1-Related Disorders via the GLE1 Gene PreventionGenetics, part of Exact Sciences United States | 2 | 1 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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Targeted Variant, Fetal Analysis Integrated Genetics Westborough LabCorp United States | 292 | 746 |
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Integrated Genetics Westborough LabCorp United States | 287 | 578 |
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Integrated Genetics Westborough LabCorp United States | 292 | 597 |
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Integrated Genetics Westborough LabCorp United States | 330 | 746 |
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Integrated Genetics Westborough LabCorp United States | 287 | 578 |
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Arthrogryposis panel. NGS panel of 69 genes. Genologica Medica Spain | 135 | 69 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Congenital arthrogryposis with anterior horn cell disease: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
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GeneDx United States | 156 | 91 |
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Fulgent Genetics United States | 175 | 60 |
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Beacon Expanded Female Carrier Screening Plus Panel Fulgent Genetics United States | 716 | 335 |
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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.