Anlagsbärartest Standardpanel (29 sjukdomar)

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Anlagsbärartest Standardpanel omfattar analys av gener för 29 recessiva sjukdomar.

  • Alpha-thalassemia
  • Beta-thalassemia
  • Bloom syndrome
  • Canavan disease
  • Congenital amegakaryocytic thrombocytopenia
  • Cystic fibrosis (600 mutations)
  • Dihydrolipoamide dehydrogenase deficiency
  • Familial dysautonomia
  • Familial hyperinsulinism, ABCC8-related
  • Fanconi anemia, type C
  • Fragile X syndrome (X-linked)
  • Gaucher disease
  • Glycogen storage disease, type IA
  • Hemoglobinopathy, Hb C
  • Hemoglobinopathy, Hb D
  • Hemoglobinopathy, Hb E
  • Hemoglobinopathy, Hb O
  • Joubert syndrome 2
  • Maple syrup urine disease, type IA
  • Maple syrup urine disease, type IB
  • Mucolipidosis, type IV
  • Nemaline myopathy 2
  • Niemann-Pick disease, type A and B
  • Sickle cell anemia (Hb S)
  • Spinal muscular atrophy
  • Tay-Sachs disease
  • Usher syndrome, type IF
  • Usher syndrome, type III
  • Walker-Warburg syndrome