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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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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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Molecular Vision Laboratory United States | 1358 | 1028 |
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GDF3 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Centogene AG - the Rare Disease Company Germany | 417 | 413 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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Invitae Limb and Digital Malformations Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 356 | 177 |
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Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States | 73 | 55 |
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PreventionGenetics, part of Exact Sciences United States | 9 | 6 |
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Invitae Inherited Retinal Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 486 | 293 |
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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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Molecular Vision Laboratory United States | 342 | 268 |
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Microphthalmia, isolated, with coloboma: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 8 | 8 |
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Retinopathy and Optic Atrophy NGS Panel Fulgent Genetics United States | 563 | 241 |
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Microphthalmia, Anophthalmia, and Coloboma Panel NGS Panel Fulgent Genetics United States | 244 | 78 |
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Leber congenital amaurosis panel Molecular Vision Laboratory United States | 43 | 23 |
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Molecular Vision Laboratory United States | 372 | 283 |
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Developmental Eye Disease panel Molecular Vision Laboratory United States | 109 | 59 |
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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.