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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Carrier Screening - Comprehensive Panel (145 Genes) Genesys Diagnostics Genesys Diagnostics, Inc. United States | 185 | 145 |
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HFE - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 6 | 1 |
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BMP2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 3 | 1 |
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Invitae Iron Related Disorders Panel Invitae United States | 39 | 27 |
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Invitae Skeletal Disorders Panel Invitae United States | 624 | 349 |
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Invitae Limb and Digital Malformations Panel Invitae United States | 356 | 177 |
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Hemochromatosis, 235200, Autosomal recessive (Symptomatic form of hemochromatosis type 1) (MLPA) Intergen Intergen Genetics and Rare Diseases Diagnosis Center Turkey | 1 | 1 |
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Invitae United States | 409 | 164 |
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Invitae 78 Gene Actionable Disorders Panel Invitae United States | 220 | 75 |
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Comprehensive Cardiology Panel PreventionGenetics, part of Exact Sciences United States | 220 | 196 |
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Differences of Sex Development (DSD) Panel PreventionGenetics, part of Exact Sciences United States | 149 | 158 |
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Differences of Sex Development (DSD) and Infertility Panel PreventionGenetics, part of Exact Sciences United States | 223 | 238 |
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PreventionGenetics, part of Exact Sciences United States | 128 | 139 |
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PreventionGenetics, part of Exact Sciences United States | 96 | 105 |
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Hereditary Hemochromatosis Panel PreventionGenetics, part of Exact Sciences United States | 7 | 7 |
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Invitae Hereditary Hemochromatosis Panel Invitae United States | 11 | 6 |
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Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders Germany | 1 | 1 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Fulgent Genetics United States | 15 | 11 |
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Fulgent Genetics United States | 12 | 7 |
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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.