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Products found: 40Search results

Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases

Disorder Genes Test Method Lab Info Product code  
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases ATP6V0A2-Related Cutis Laxa ATP6V0A2, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases C10orf2-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form C10orf2, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases C3-Related Atypical Hemolytic-Uremic Syndrome C3, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases CD46-Related Atypical Hemolytic-Uremic Syndrome CD46, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases CFB-Related Atypical Hemolytic-Uremic Syndrome CFB, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases CFH-Related Atypical Hemolytic-Uremic Syndrome CFH, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases CFI-Related Atypical Hemolytic-Uremic Syndrome CFI, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form DGUOK, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases Dihydrolipoamide Dehydrogenase E3 Deficiency DLD, Sequence analysis of the entire coding region
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency CBS, Enzyme assay
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency CBS, Targeted mutation analysis
Radboud University Medical Centre, Laboratory of Genetic, Endocrine, and Metabolic Diseases Leber Hereditary Optic Neuropathy MT-ATP6, MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, Targeted mutation analysis
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