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)Learn more
Coenzyme q10 Deficiency(ME0801) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Comprehensive Metabolism(ME0701) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Congenital and Familial Lipodystrophy(ME1001) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Congenital Disorders of Glycosylation(ME1901) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Creatine Metabolism Deficiency(ME1301) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Cystinuria(ME1801) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Fatty Acid Oxidation Syndrome(ME1701) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Glycogen Storage Disorder(ME0301) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Hereditary Hemochromatosis(ME1101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Hyperammonemia and Urea Cycle Disorder(ME1601) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Hyperphenylalaninemia(ME2001) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Hypoglycemia, Hyperinsulinism and Ketone Metabolism(ME0601) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Hypomagnesemia(ME0501) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Lysosomal Disorders and Mucopolysaccharidosis(ME1501) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Metabolic Myopathy and Rhabdomyolysis(ME1401) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Mitochondrial DNA Depletion Syndrome(ME0201) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Monogenic Obesity(KI1701) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Organic Acidemia, Aciduria and Cobalamin Deficiency(ME0901) Sequencing (€ 1600)DEL / DUP (€ 900)Plus (€ 1900)Learn more
Periodic Paralysis(ME2101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Peroxisomal Disorders(ME0401) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more
Porphyria Panel(ME0101) Sequencing (€ 1200)DEL / DUP (€ 900)Plus (€ 1600)Learn more

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