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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
0
5000
10000
15000
20000
25000
30000
35000
40000
45000
2005200620072008200920102011201220132014Nov-15
No. of samples recevied by newborn screening labaoratory
Stat2222
Stat2222

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Stat2222

  • 1.
  • 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