Newborn screening

  • Hypothyroidism
  • Adrenogenital syndrome (AGS)
  •  Biotinidase deficiency
  • Galactosemia
  • Phenylketonuria (PKU) and Hyperphenylalaninemia (HPA)
  • Maple Leaf Disease (MSUD)
  • Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
  • Long-chain 3-OH-Acyl-CoA dehydrogenase deficiency (LCHAD)
  • Very long-chain acyl-CoA dehydrogenase deficiency (VLCAD)
  • Carnitine cycle defects (carnitine palmitoyltransferase I (CPT-I) deficiency, carnitine palmitoyltransferase II (CPT-II) deficiency, carnitine acylcarnitine translocase deficiency)
  • Glutaric Aciduria Type I (GA I)
  • Isovaleric acidemia (IVA)
  • Type I tyrosinemia
  • Severe combined immunodeficiency (SCID)
  • Sickle cell disease
  • 5q-associated spinal muscular atrophy (SMA)
  • Cystic fibrosis (immunoreactive trypsin (IRT) only)

 

 

 

 

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