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University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases

Disorder Genes Test Method Lab Info Product code  
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Carnitine Palmitoyltransferase II Deficiency CPT2, Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Carnitine Palmitoyltransferase II Deficiency CPT2, Enzyme assay
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Carnitine Palmitoyltransferase II Deficiency CPT2, Sequence analysis of the entire coding region
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Carnitine-Acylcarnitine Translocase Deficiency SLC25A20, Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Carnitine-Acylcarnitine Translocase Deficiency SLC25A20, Enzyme assay
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Carnitine-Acylcarnitine Translocase Deficiency SLC25A20, Sequence analysis of the entire coding region
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Chondrodysplasia Punctata 2, X-Linked EBP, Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Chondrodysplasia Punctata 2, X-Linked EBP, Sequence analysis of the entire coding region
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Desmosterolosis DHCR24, Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Desmosterolosis DHCR24, Sequence analysis of the entire coding region
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Dihydropyrimidinase Deficiency DPYS, Analyte
University of Amsterdam Academic Medical Center, Laboratory Genetic Metabolic Diseases Dihydropyrimidinase Deficiency DPYS, Enzyme assay
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