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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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ALG6 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 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 | 734 | 744 |
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Centogene AG - the Rare Disease Company Germany | 247 | 262 |
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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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Invitae Leukodystrophy and Genetic Leukoencephalopathy Panel Invitae United States | 971 | 680 |
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Invitae Inborn Errors of Immunity and Cytopenias Panel Invitae United States | 754 | 562 |
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Invitae United States | 173 | 119 |
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Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
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Invitae Congenital Diarrhea Panel Invitae United States | 121 | 83 |
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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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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Congenital Disorder of Glycosylation Type Ic Myriad Genetics, Inc. United States | 1 | 1 |
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ALG6 - Congenital disorder of glycosylation type Ic Translational Metabolic Laboratory Radboud University Medical Centre Netherlands | 1 | 1 |
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Congenital Disorders of Glycosylation (CDG) Panel PreventionGenetics, part of Exact Sciences United States | 56 | 54 |
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Invitae Primary Immunodeficiency Panel Invitae United States | 552 | 424 |
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Invitae United States | 466 | 297 |
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Invitae Congenital Disorders of Glycosylation Panel Invitae United States | 203 | 152 |
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Congenital Disorders of Glycosylation Panel Baylor Genetics United States | 29 | 27 |
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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.