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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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IRX5 Gene Hamamy syndrome NGS Genetic DNA Test DNA Labs India India | 1 | 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 | 777 | 770 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Facial Dysostosis and Frontonasal Dysplasia Panel Invitae United States | 44 | 28 |
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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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qGenEx Intellectual disability Quantitative Genomic Medicine Laboratories, SL Spain | 3 | 1969 |
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Comprehensive Hearing Loss + mtDNA MNG Laboratories (Medical Neurogenetics, LLC.) United States | 218 | 300 |
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Diseases of the posterior ocular segment (WES based NGS panel of 307 gene, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 307 |
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CGC Genetics Unilabs Portugal | 1 | 1293 |
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Craniosynostosis (WES based NGS panel of 69 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 1 | 69 |
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Skeletal Dysplasias and Disorders Panel CGC Genetics Unilabs Portugal | 1 | 606 |
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Hamamy syndrome (sequence analysis of IRX5 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Mendelics Brazil | 1 | 321 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 85 |
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Laboratorio de Genetica Clinica SL Spain | 1 | 643 |
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Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain | 373 | 169 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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GeneDx United States | 2 | 2592 |
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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.