METABOLIC DISORDERS - We offer comprehensive genetic diagnostics for hereditary metabolic disorders, also known as “inborn errors of metabolism.” Hundreds of inherited metabolic disorders have been identified. These include disorders of lysosomal storage, fatty acid oxidation, creatine metabolism, glycosylation, glycogen storage and urea cycle, peroxisomal disorders, organic acidemias, hypoglycemia, hyperinsulinism and ketone metabolism deficiency, lipodystrophy, hyperphenylalaninemia, and mitochondrial DNA depletion. These medical conditions vary in severity and age of onset, and they can cause lifelong health problems or even death.
Aicardi-Goutières Syndrome(ME1201) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Coenzyme q10 Deficiency(ME0801) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Comprehensive Metabolism(ME0701) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Congenital and Familial Lipodystrophy(ME1001) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Congenital Disorders of Glycosylation(ME1901) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Creatine Metabolism Deficiency(ME1301) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Cystinuria(ME1801) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Fatty Acid Oxidation Syndrome(ME1701) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Glycogen Storage Disorder(ME0301) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Hereditary Hemochromatosis(ME1101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Hyperammonemia and Urea Cycle Disorder(ME1601) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Hyperphenylalaninemia(ME2001) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Hypoglycemia, Hyperinsulinism and Ketone Metabolism(ME0601) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Hypomagnesemia(ME0501) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Lysosomal Disorders and Mucopolysaccharidosis(ME1501) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Metabolic Myopathy and Rhabdomyolysis(ME1401) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Mitochondrial DNA Depletion Syndrome(ME0201) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Monogenic Obesity(KI1701) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Organic Acidemia, Aciduria and Cobalamin Deficiency(ME0901) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Afla mai multe
Periodic Paralysis(ME2101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Peroxisomal Disorders(ME0401) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe
Porphyria Panel(ME0101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Afla mai multe