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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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PHKA1 - 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 | 669 | 688 |
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Centogene AG - the Rare Disease Company Germany | 247 | 262 |
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Centogene AG - the Rare Disease Company Germany | 325 | 316 |
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Invitae United States | 173 | 119 |
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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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Johns Hopkins Genomics DNA Diagnostic Laboratory Johns Hopkins Hospital United States | 480 | 254 |
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Invitae Comprehensive Glycogen Storage Disease Panel Invitae United States | 37 | 28 |
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Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Panel PreventionGenetics, part of Exact Sciences United States | 106 | 83 |
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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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PHKA1 Comprehensive - Sequence & Deletion/Duplication Analysis Baylor Genetics United States | 1 | 1 |
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Glycogen Storage Disease Type IX via the PHKA1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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Metabolic myopathy and rhabdomyolysis panel. NGS panel of 52 genes. Genologica Medica Spain | 89 | 52 |
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Glycogen storage disorder panel. 29-gene NGS panel. Genologica Medica Spain | 33 | 29 |
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Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain | 73 | 50 |
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Glycogenosis (inherited metabolic disorders). NGS panel of 24 genes. Genologica Medica Spain | 30 | 24 |
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General panel of metabolic myopathies Genologica Medica Spain | 114 | 110 |
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