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Epilepsy, Metabolic and Brain development disorders

/Epilepsy, Metabolic and Brain development disorders
Epilepsy, Metabolic and Brain development disorders 2018-02-12T05:53:47+00:00
  • The panel for hereditary Epilepsy, Metabolic and Brain Development Disorders covers 670 genes. All of these genes are sequenced simultaneously. Only genes which have an association with the phenotype of the patient will be interpreted. For diagnostic purposes, each of the gene sets can be requested individually or in combination. A combination of individual genes is also possible.

Epilepsy

  • Migraine
  • Familial and idiopathic epilepsy
  • Developmental delay, epileptic encephalopathies
  • Progressive myoclonus epilepsy and neuronal ceroid lipofuscinosis
  • GPI anchor deficiency with or without phosphatasis
  • Hyperekplaxia
  • Mitochondrial epilepsy

Metabolic diseases

  • Maturity-onset diabetes of the young (MODY)
  • Hyperinsulinemic hypoglycemia
  • Glycogen storage disease
  • Congenital Disorder of Glycosylation (CDG syndrome)
  • Lysosomal disorder
  • Urea cycle disorder
  • Peroxisome, biogenesis and zellweger spectrum disorder
  • Glycine encephalopathies
  • Hyperphenylalaninemia
  • DLD deficiency and maple syrup urine disorder
  • Molybdenum cofactor and sulfite oxidase deficiencies
  • Methylmalonic acidemia
  • Methylglutaconic aciduria
  • 3-methylglutaconic aciduria

Brain disorders

  • Microcephaly and pontocerebellar hypoplasia
  • Macrocephaly
  • Neuronal migration disorder
  • Holoprosencephaly
  • Leukodystrophy/Leukoencephalopathy
  • Joubert syndrome
  • Aicardi-Goutieres syndrome
  • Cornelai de lange syndrome
  • Cerebral microangiopaties
  • Leukodystrophy / Leukpencephalopathy and differential diagnosis
  • Coffin-Siris syndrome