Panels


NeuroMeGen panels

NeuroMeGen Genetic Panels

NMG1: Hypoglycemia

NMG1_1: Endogenously produced hyperinsulinism

NMG1_2: Hepatic glycogenosis

NMG1_3: Gluconeogenesis

NMG1_4: Monosaccharides metabolism

NMG1_5: Defects fatty acid beta oxidation

NMG1_6: Ketogenesis, cetolisis

NMG3: Defects intermediary metabolism

NMG3_1: Urea Cycle

NMG3_2: Aminoacidopathies

NMG3_3: Organic acidurias

NMG3_4: Beta oxidation

NMG3_5: Defects purine-pyrimidine metabolism

NMG4: Mitochondrial diseases

NMG4_1: Defect in a complex of the respiratory chain

NMG4_2: Primary deficiencies of coenzyme Q

NMG4_3: Syndrome mtDNA depletion

NMG4_4: Deficit pyruvate dehydrogenase

NMG4_5: Combined deficiency of oxidative phosphorylation

NMG4_6: Other defects that overlap clinically with mitochondrial diseases

NMG5: Metabolism complex molecules

NMG5_1: Lysosomal diseases

NMG5_2: Peroxisomal diseases

NMG5_3: Neuronal ceroid lipofuscinosis

NMG5_4: Cholesterol Metabolism

NMG5_5: Bile acid metabolism

NMG6: Leukodystrophies

NMG7: Epilepsy

NMG8: Myopathies

NMG8_1: Structural myopathies

NMG8_2: Metabolic myopathies

NMG8_3: Peripheral polyneuropathy

NMG9: Hypermobility

NMG10: Hyperglycemia

NMG10_1: Neonatal diabetes

NMG10_2: MODY

NMG11: Movement disorders

NMG12: Ras-MAPK pathway

NMG13: Defects brain morphogenesis

NMG14: Ciliopathies

NMG15: Mental retardation

NMG16: Craniosynostosis

NMG18: Deafness