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Tests names and labs | Conditions | Genes, analytes, and microbes | Methods |
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PCK1 - 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 Pyruvate Metabolism and Related Disorders Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 40 | 38 |
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Labcorp Genetics (formerly Invitae) LabCorp United States | 173 | 119 |
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PreventionGenetics, part of Exact Sciences United States | 131 | 115 |
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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 Glycogen Storage Disease Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 37 | 28 |
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PreventionGenetics, part of Exact Sciences United States | 38 | 38 |
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Invitae Organic Acidemias Panel Labcorp Genetics (formerly Invitae) LabCorp United States | 118 | 98 |
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Cytosolic Phosphoenolpyruvate Carboxykinase 1 Deficiency via the PCK1 Gene PreventionGenetics, part of Exact Sciences United States | 1 | 1 |
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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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Hypoglycemia, hyperinsulinism, and ketone metabolism panel. NGS panel of 50 genes. Genologica Medica Spain | 73 | 50 |
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Phosphoenolpyruvate carboxykinase deficiency, cytosolic: Full gene sequencing CEN4GEN Institute for Genomics and Molecular Diagnostics Canada | 1 | 1 |
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PCK1 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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PCK1 Sequence Analysis (Familial Mutation/Variant Analysis) Baylor Genetics United States | 1 | 1 |
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PCK1 Gene Sequencing by Massively Parallel Sequencing (BCM-NGSSM) Baylor Genetics United States | 1 | 1 |
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PCK1 Sequence Analysis (Prenatal Sequence Analysis) Baylor Genetics United States | 1 | 1 |
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Al Jalila Children’s Genomics Center Al Jalila Childrens Speciality Hospital United Arab Emirates | 17 | 17 |
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