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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Achromatopsia 2 (sequence analysis of PDE6C gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Molecular Vision Laboratory United States | 1358 | 1028 |
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VSX2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 2 | 1 |
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Microphthalmia/Anophthalmia/Coloboma Panel PreventionGenetics, part of Exact Sciences United States | 73 | 55 |
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Invitae Comprehensive Carrier Screen Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
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Anterior Segment Dysgenesis Disorders Panel PreventionGenetics, part of Exact Sciences United States | 272 | 278 |
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PreventionGenetics, part of Exact Sciences United States | 157 | 171 |
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Institute for Human Genetics University Medical Center Freiburg Germany | 2 | 1 |
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Microphthalmia isolated 2 (sequence analysis of VSX2 gene) CGC Genetics Unilabs Portugal | 1 | 1 |
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Cataract panel. NGS panel of 69 genes. Genologica Medica Spain | 146 | 69 |
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Ectopia lentis panel. 14-gene NGS panel. Genologica Medica Spain | 26 | 14 |
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Natera, Inc. United States | 244 | 254 |
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Natera, Inc. United States | 103 | 106 |
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Natera, Inc. United States | 103 | 106 |
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Natera, Inc. United States | 265 | 274 |
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Natera, Inc. United States | 265 | 274 |
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Natera, Inc. United States | 265 | 274 |
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Microphthalmia, isolated: Full gene sequencing panel CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 7 | 7 |
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Asper Biogene Asper Biogene LLC Estonia | 30 | 18 |
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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.