Test Catalog

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Metabolic disorders of hepatocytes, including tyrosinemia, glycogen storage diseases, Hyperammonemia, Shwachman-Diamond syndrome, disorder of fatty acid oxidations and peroxisomal diseases
€1,400.00 Laboratory:
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Lysosomal storage disorders
€950.00 Laboratory:
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Recurrent acute liver failure
€950.00 Laboratory:
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Hepatic mitochondriopathies.
€1,250.00 Laboratory:
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Congenital disorders of glycosylation (CDG syndrome)
€1,400.00 Laboratory:
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Lysosomal disorders
€1,400.00 Laboratory:
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Peroxisome biogenesis disorders: Zellweger spectrum disorder
€1,250.00 Laboratory:
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Cerebral creatine deficiency
€950.00 Laboratory:
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Urea cycle disorders
€950.00 Laboratory:
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Glycine encephalopathy.
€950.00 Laboratory:
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Hyperphenylalaninemia
€950.00 Laboratory:
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Maple syrup urine disease and DLD deficiency
€950.00 Laboratory:
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Methylmalonic acidemia
€1,250.00 Laboratory:
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3-Methylglutaconic aciduria.
€950.00 Laboratory:
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Hyperinsulinemic hypoglycemia.
€950.00 Laboratory:
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Maturity-onset diabetes of the young (MODY)
€1,250.00 Laboratory:
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Glycogen storage diseases
€1,250.00 Laboratory:
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Fatty acid oxidation disorders
€1,250.00 Laboratory:
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Mitochondrial DNA (mtDNA)
€1,400.00 Laboratory:
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Nuclear encoded mitochondrial diseases
€1,400.00 Laboratory:
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Mitochondrial DNA depletion syndrome.
€1,250.00 Laboratory:
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Metabolic myopathy
€1,400.00 Laboratory:
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Pyruvat dehydrogenase complex deficiency
€950.00 Laboratory:
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Combined oxidative phosphorylation deficiency (COXPD)
€1,400.00 Laboratory:
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Mitochondrial complex deficiency (complex I-V)
€1,400.00 Laboratory:
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Coenzyme Q10-related disease
€1,250.00 Laboratory:
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Metabolic leukodystrophy/leukoencephalopathy and differential diagnoses
€1,400.00 Laboratory:
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Analysis for microsatellite instability (MSI) via PCR
€350.00 Laboratory:
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Parkinson's disease, autosomal dominant
€950.00 Laboratory:
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Parkinson's disease, autosomal recessive.
€1,250.00 Laboratory:
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Test Catalog

Metabolic disorders of hepatocytes, including tyrosinemia, glycogen storage diseases, Hyperammonemia, Shwachman-Diamond syndrome, disorder of fatty acid oxidations and peroxisomal diseases

Lysosomal storage disorders

Recurrent acute liver failure

Hepatic mitochondriopathies.

Congenital disorders of glycosylation (CDG syndrome)

Lysosomal disorders

Peroxisome biogenesis disorders: Zellweger spectrum disorder

Cerebral creatine deficiency

Urea cycle disorders

Glycine encephalopathy.

Hyperphenylalaninemia

Maple syrup urine disease and DLD deficiency

Methylmalonic acidemia

3-Methylglutaconic aciduria.

Hyperinsulinemic hypoglycemia.

Maturity-onset diabetes of the young (MODY)

Glycogen storage diseases

Fatty acid oxidation disorders

Mitochondrial DNA (mtDNA)

Nuclear encoded mitochondrial diseases

Mitochondrial DNA depletion syndrome.

Metabolic myopathy

Pyruvat dehydrogenase complex deficiency

Combined oxidative phosphorylation deficiency (COXPD)

Mitochondrial complex deficiency (complex I-V)

Coenzyme Q10-related disease

Metabolic leukodystrophy/leukoencephalopathy and differential diagnoses

Analysis for microsatellite instability (MSI) via PCR

Parkinson's disease, autosomal dominant

Parkinson's disease, autosomal recessive.