Tandem mass spectrophotometry

Tandem mass spectrophotometryTandem mass spectrophotometry

Amino acid disorders :
  ArgininosuccinicAciduna (ASA Lyase deficiency)
  Citrullinemia (ASA Synthetase deficiency)
  Homocystinuria (Cystathionine synthase def.)
  Maple Syrup Urine Disease (MSUD)
  Phenylketonuria (PKU)
  Tyrosinemia (Type I)

 

Fatty acid disorders :
  3-Hydroxy-3-methylglutaryl-CoA lyase def. (3HMG)
  Long chain Hydroxy Acyl-CoA Dehydrogenase def. (LCHAD)
  Medium Chain Acyl-CoA Dehydrogenase def. (MCAD)

  Trifunctional protein deficiency (TFP)
  Very Long Chain Acyl-CoA dehydrogenase def. (VLCAD)

 


Organic acid disorders :
  3-Methylcrotonyl-CoA Carboxylase def. (3MCC)
  Beta Ketothiolase deficiency (Mitochondral Acetoacetyl CoA Thiolase def)
  Glutaric Acidemia Type I (GA-I))
  Isovaleric Acidemia (IVA)
  Methyl Malonic Acidemia (MMA)
  Multiple CoA Carboxylase def. (MCD)
  Propionic Acidemia (PA)

 

DELFIA LAB

DELFIA LABDELFIA LAB


 

Congenital hypothyroidism

Congenital adrenal hyperplasia

Galactosemia

Biotindase deficiency

Tandem mass spectrophotometry

Tandem mass spectrophotometryTandem mass spectrophotometry

DELFIA LAB

DELFIA LABDELFIA LAB