Congential Hypothyroidism
G6PD Deficiency (G6PD)
Biotinidase deficiency
Congenital Adrenal Hyperplasia (17-OHP)
Congenital Hypothyroidism (TSH)
Cystic Fibrosis
Galactosemia
Sickle Cell Anaemia (Hb SS)
Beta thalassemia
Sickle Cell Disease
Variant hemoglobinopathies(C.D,H, bart band) including Hb E(Var Hb)
Amino acid Disorders
Argininemia ARG
Argininosuccinic aciduria
5-oxoprolinuria
carbamoyl phosphate synthetase 1- deficiency
Citrullinenia CIT-I
Homocystinuria
Hypermethioninemia
Hyperornithinemia-hyperammoninemia-hyperhomocitrullinemia (HHH) syndrome
Hyperornithinemia with Gyral Atrophy 1 HOGA
Maple syrup urine disease (MSUD)
Classical Hyperphenylalaninemia
Transient neonatal tyrosinemia
Tyrosinemia Type 1
Tyrosinemia Type II
Tyrosinemia Type III
Ornithine transcarbamylase deficiency
Citrullinemia type II
Biopterin defect in cofactor biosynthesis BIOPT (BS)
Bioptrin defect in confactor regeneration BIOPT (REG)
Fatty Acid Oxidation and Other Disorders
Carnitine Acylcarnitine Translocase Deficiency CACT
3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency LCHAD
Medium chain acyl CoA dehydrogenase deficiency
Neonatal Carnitine Palmitoyl Transferase Deficiency Type II CPT-II
Very Long Chain Acyl-CoA Dehydrogenase Deficiency VLCAD
Carnitine Palnitoyl Transferase Deficiency Type II CPT-I
2,4-Dienoyl-CoA Reductase Deficiencyl DE-RED
Multiple Acyl-CoA Dehydrogenase Deficeincy GA-II
Short chain acyl CoA dehydrogenase deficiency
Trifunctional Protein Deficiency TFP
Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency SCHAD
3-Hydroxy-3-Methylglutary-CoA Lyase Deficiency HMG
Gluatric Acidemia Type 1 GA-1
Isobutyryl-CoA dehydrogenase deficiency (IBD)
Isovaleric acidemia
2-Methylbutyryl-CoA Dehydrogenase Deficiency 2MBG
3-Methylcrotonyl-CoA Carboxylase Deficiency 3MCC
3-Methylglutaconyl-CoA Hydratase Deficiency 3MGA
Methymalonyl-CoA Mutase Deficiency MUT
Maternal Vitamin B12 Deficiency
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency BKT
Propionic acidemia
Multiple CoA Carboxylase Deficiency MCD
Malonic acidemia (MAL)
Hyperalimentation
Medium Chain Triglyceride Oil Administration MCT
Treatment with benzoate, Pyvalic Acid, or Valproic Acid
Liver Disease
Presence of EDTA Coagulants in Blood Specimen
Carnitine Uptake Deficiency CUD
Medium-chain ketoacyl-CoA thiolase deficiency MCAT
Methylmalonic Acidemia ( Cobalamin disorders) Cbl A, B
Methylmalonic Acidemia with homocystinuria Cbl C, D
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