More Related Content
More from Newborn Screening KW (20)
Stat2222
- 2. Test
Amino Acidemias :
Phenylketonuria (PKU)
Maple syrup urine disease (MSUD)
Homocystinuria (Cystathionine synthase def.)
Citrullinemia (ASA synthase deficiency )
Tyrosinemia (Type 1)
Argininosuccinic Aciduria (ASA Lyase deficiency)
Organic Acidemias :
Propionic Acidemia (PA)
Methylmalonic Acidemia (MMA)
Isovaleric Acidemia (IVA)
Glutaric Acidemia Type I (GA-I)
3-methylcrotonyl-CoA Carboxylase deficiency (3MCC)
Beta Ketothiolase deficiency (Mitochondrial Acetoacetyl CoA Thiolase deficiency)
Multiple CoA Carboxylase deficiency (MCD)
Fatty Acid Oxidation Defect :
Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)
Very Long Chain Acyl CoA Dehydrogenase Deficiency (VLCAD)
Long Chain Hydroxy Acyl Dehydrogenase (LCHAD)
Trifunctional Protein Deficiency (TFP)
3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency (3HMG)
Galactosemia
Biotinidase Deficiency
Endocrine Disorders :
Congenital Hypothyrodism
From June 2014
the screening panel
expanded to
include 22 diseases
Tandem
MS/MS
DELFIA