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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
---|---|---|---|
Molecular Vision Laboratory United States | 1358 | 1028 |
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Centogene AG - the Rare Disease Company Germany | 316 | 314 |
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POMGNT1 - NGS including CNV analysis Centogene AG - the Rare Disease Company Germany | 4 | 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 | 777 | 770 |
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Centogene AG - the Rare Disease Company Germany | 417 | 413 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Centogene AG - the Rare Disease Company Germany | 740 | 728 |
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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 Rhabdomyolysis and Metabolic Myopathy Panel Invitae United States | 202 | 128 |
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PreventionGenetics, part of Exact Sciences United States | 285 | 137 |
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Invitae Supplemental Metabolic Newborn Screening Panel Invitae United States | 253 | 189 |
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Invitae Brain Malformations Panel Invitae United States | 247 | 161 |
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Autism Spectrum Disorders (ASD) Panel PreventionGenetics, part of Exact Sciences United States | 224 | 170 |
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Retinitis pigmentosa 76, 617123, Autosomal recessive; RP76 (Retinitis pigmentosa) (MLPA) 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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
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Invitae Inherited Retinal Disorders Panel Invitae United States | 486 | 293 |
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Invitae Comprehensive Carrier Screen Invitae United States | 886 | 547 |
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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.