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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Centogene AG - the Rare Disease Company Germany | 195 | 221 |
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PHKG2 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 1 | 1 |
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Centogene AG - the Rare Disease Company Germany | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 247 | 262 |
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Invitae United States | 173 | 119 |
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PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States | 37 | 28 |
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PreventionGenetics, part of Exact Sciences United States | 38 | 38 |
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Glycogen Storage Disease and Disorders of Glucose Metabolism Panel PreventionGenetics, part of Exact Sciences United States | 33 | 33 |
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PHKG2 Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
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PHKG2 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
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Baylor Genetics United States | 842 | 637 |
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Glycogen Storage Disease Type IX via the PHKG2 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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PHKG2 Deletion/duplication analysis Cincinnati Children's Hospital Medical Center Genetics and Genomics Diagnostic Laboratory Cincinnati Children's Hospital Medical Center United States | 1 | 1 |
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Comprehensive Metabolism NGS Panel Fulgent Genetics United States | 602 | 355 |
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Fulgent Genetics United States | 71 | 53 |
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Fulgent Genetics United States | 36 | 30 |
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Genomic Diagnostic Laboratory, Division of Genomic Diagnostics Children's Hospital of Philadelphia United States | 11 | 11 |
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Fulgent Genetics United States | 1 | 1 |
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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.