Category: Генетические исследования

“Lysosomal storage disorders” has been added to your cart. View cart

Showing 151–200 of 256 results

Bardet-Biedl syndrome
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Joubert syndrome
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Meckel syndrome
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Senior-Loken syndrome
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Cholestasis familial
€950.00 Laboratory:
CeGaT (DE)Add to cart
Hypercholanemia and bile acid synthesis defects
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Impairment of the transport in hepatocytes and cholangiocytes
€950.00 Laboratory:
CeGaT (DE)Add to cart
Impairment of the organo morphogensis
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
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:
CeGaT (DE)Add to cart
Lysosomal storage disorders
€950.00 Laboratory:
CeGaT (DE)Add to cart
Recurrent acute liver failure
€950.00 Laboratory:
CeGaT (DE)Add to cart
Hepatic mitochondriopathies.
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Congenital disorders of glycosylation (CDG syndrome)
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Lysosomal disorders
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Peroxisome biogenesis disorders: Zellweger spectrum disorder
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Cerebral creatine deficiency
€950.00 Laboratory:
CeGaT (DE)Add to cart
Urea cycle disorders
€950.00 Laboratory:
CeGaT (DE)Add to cart
Glycine encephalopathy.
€950.00 Laboratory:
CeGaT (DE)Add to cart
Hyperphenylalaninemia
€950.00 Laboratory:
CeGaT (DE)Add to cart
Maple syrup urine disease and DLD deficiency
€950.00 Laboratory:
CeGaT (DE)Add to cart
Methylmalonic acidemia
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
3-Methylglutaconic aciduria.
€950.00 Laboratory:
CeGaT (DE)Add to cart
Hyperinsulinemic hypoglycemia.
€950.00 Laboratory:
CeGaT (DE)Add to cart
Maturity-onset diabetes of the young (MODY)
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Glycogen storage diseases
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Fatty acid oxidation disorders
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Mitochondrial DNA (mtDNA)
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Nuclear encoded mitochondrial diseases
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Mitochondrial DNA depletion syndrome.
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Metabolic myopathy
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Pyruvat dehydrogenase complex deficiency
€950.00 Laboratory:
CeGaT (DE)Add to cart
Combined oxidative phosphorylation deficiency (COXPD)
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Mitochondrial complex deficiency (complex I-V)
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Coenzyme Q10-related disease
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Metabolic leukodystrophy/leukoencephalopathy and differential diagnoses
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Analysis for microsatellite instability (MSI) via PCR
€350.00 Laboratory:
CeGaT (DE)Add to cart
Parkinson's disease, autosomal dominant
€950.00 Laboratory:
CeGaT (DE)Add to cart
Parkinson's disease, autosomal recessive.
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Atypical Parkinson's disease
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Dystonia-Parkinsonism
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Parkinson's disease
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Primary torsion dystonia
€950.00 Laboratory:
CeGaT (DE)Add to cart
Dystonia plus syndrome
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Paroxysmal dyskinesia
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Dystonia
€1,400.00 Laboratory:
CeGaT (DE)Add to cart
Neurodegeneration with brain iron accumulation (NBIA)
€1,250.00 Laboratory:
CeGaT (DE)Add to cart
Hereditary spastic paraplegia (HSP) all
€1,400.00 Laboratory:
CeGaT (DE)Read more
Neuronal ceroid lipofuscinosis (NCL).
€1,250.00 Laboratory:
CeGaT (DE)Read more
Leukodystrophy/leukoencephalopathy and differential diagnoses
€1,400.00 Laboratory:
CeGaT (DE)Read more
Cerebral small vessel disease
€1,250.00 Laboratory:
CeGaT (DE)Read more

Category: Генетические исследования

Bardet-Biedl syndrome

Joubert syndrome

Meckel syndrome

Senior-Loken syndrome

Cholestasis familial

Hypercholanemia and bile acid synthesis defects

Impairment of the transport in hepatocytes and cholangiocytes

Impairment of the organo morphogensis

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.

Atypical Parkinson's disease

Dystonia-Parkinsonism

Parkinson's disease

Primary torsion dystonia

Dystonia plus syndrome

Paroxysmal dyskinesia

Dystonia

Neurodegeneration with brain iron accumulation (NBIA)

Hereditary spastic paraplegia (HSP) all

Neuronal ceroid lipofuscinosis (NCL).

Leukodystrophy/leukoencephalopathy and differential diagnoses

Cerebral small vessel disease