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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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Centogene AG - the Rare Disease Company Germany | 243 | 238 |
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POU1F1 - 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 | 498 | 498 |
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Centogene AG - the Rare Disease Company Germany | 499 | 499 |
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Centogene AG - the Rare Disease Company Germany | 829 | 848 |
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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 Labcorp Genetics (formerly Invitae) LabCorp United States | 886 | 547 |
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Short stature with endocrinopathy Comprehensive panel HNL Genomics Connective Tissue Gene Tests United States | 16 | 14 |
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Short stature with endocrinopathy Deletion / Duplication panel HNL Genomics Connective Tissue Gene Tests United States | 16 | 14 |
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Short stature with endocrinopathy NGS panel HNL Genomics Connective Tissue Gene Tests United States | 16 | 14 |
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Combined Pituitary Hormone Deficiency (CPHD) Panel PreventionGenetics, part of Exact Sciences United States | 9 | 9 |
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Congenital Hypothyroidism and Thyroid Hormone Resistance Panel PreventionGenetics, part of Exact Sciences United States | 32 | 26 |
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Duzen Laboratories Duzen BBAGUAS Turkey | 1 | 1 |
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Hypothyroidism and thyroid hormone resistance panel. NGS panel of 21 genes. Genologica Medica Spain | 42 | 21 |
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Genologica Medica Spain | 25 | 11 |
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Pituitary hormone deficiency, combined, 1 Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
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Combined Pituitary Hormone Deficiency Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 12 | 10 |
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Comprehensive Short Stature Genetic Panel MNG Laboratories (Medical Neurogenetics, LLC.) United States | 82 | 60 |
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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.