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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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ROBO3 Gene Gaze palsy, horizontal, with progressive scoliosis NGS Genetic DNA Test DNA Labs India India | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Connective Tissue Disorders Panel PreventionGenetics, part of Exact Sciences United States | 166 | 101 |
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Strabismus Syndrome or Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) Panel PreventionGenetics, part of Exact Sciences United States | 14 | 14 |
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Ehlers-Danlos Syndromes (EDS) Panel PreventionGenetics, part of Exact Sciences United States | 99 | 65 |
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Hereditary ataxias panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 427 |
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CGC Genetics Unilabs Portugal | 1 | 223 |
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Movement diseases (WES based NGS panel of 931 genes, including CNV analysis) CGC Genetics Unilabs Portugal | 10 | 930 |
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Ehlers-Danlos, Marfan and differential diagnosis panel_v.2.0 CGC Genetics Unilabs Portugal | 1 | 58 |
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Progressive external ophthalmoplegia - scoliosis (sequence analysis of ROBO3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Progressive external ophthalmoplegia and scoliosis (deletion/duplication analysis of ROBO3 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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SPINAL MUSCULAR ATROPHY EXOME PANEL Laboratorio de Genetica Clinica SL Spain | 1 | 46 |
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Neuro-ophthalmology panel. NGS panel of 38 genes. Genologica Medica Spain | 75 | 38 |
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Genomic Unity® Custom Analysis Variantyx, Inc. United States | 1 | 4054 |
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Nonsyndromic Intellectual Disability (NGS Panel and Copy Number Analysis) MNG Laboratories (Medical Neurogenetics, LLC.) United States | 19 | 560 |
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GeneDx United States | 2 | 2592 |
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GeneDx United States | 1 | 1501 |
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NewbornDx Advanced Sequencing Evaluation Athena Diagnostics United States | 1 | 1722 |
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Gaze palsy, familial horizontal, with progressive scoliosis: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 2 | 2 |
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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.