First Step Plus Newborn Screening Panel

ACYLCARNITINE PROFILE
Fatty Acid Oxidation Disorders
Carnitine / Acylcarnitine Translocase Deficiency
Carnitine Palmitoyl Transferase Deficiency Type I
3-Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency
2,4-Dienoyl-CoA Reductase Deficiency
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Multiple Acyl-CoA Dehydrogenase Deficiency
Neonatal Carnitine Palmitoyl Transferase Deficiency Type II
Short-chain Acyl-CoA Dehydrogenase Deficiency
Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
Trifunctional Protein Deficiency
Very Long Chain Acyl-CoA Dehydrogenase Deficiency

Organic Acid Disorders
3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
Glutaric Acidemia Type I
Isobutyryl-CoA Dehydrogenase Deficiency
Isovaleric Acidemia
2-Methylbutyryl-CoA Dehydrogenase Deficiency
3-Methylcrotonyl-CoA Carboxylase Deficiency
3-Methylglutaconyl-CoA Hydratase Deficiency
Methylmalonic Acidemias
Methylmalonic Acidemias
 ­ Methymalonyl-CoA Mutase Deficiency
 ­ Some Adenosylcobalamin Synthesis Defects
 ­ Maternal Vitamin B12 Deficiency
Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
Propionic Acidemia
Multiple CoA Carboxylase Deficiency
Malonic Aciduria

AMINO ACID PROFILE
Amino Acid Disorders
Argininemia
Argininosuccinic Aciduria
5-Oxoprolinuria
Carbamoylphosphate Synthetase Deficiency
Citrullinemia
Homocystinuria
Hypermethioninemia
Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome
Hyperornithinemia with Gyral Atrophy
Maple syrup disease
Phenylketonuria
 ­ Classical / Hyperphenylalaninemia
 ­ Biopterin Cofactor Deficiencies
Tyrosinemia
 ­ Transient Neonatal Tyrosinemia
 ­ Tyrosinemia Type I
 ­ Tyrosinemia Type II
 ­ Tyrosinemia Type III

OTHER
Hyperalimentation
Liver Disease
Medium Chain Triglyceride Oil Administration
Presence of EDTA Anticoagulants in blood specimen
Treatment with Benzoate, Pyvalic Acid, or Valproic Acid
Carnitine Uptake Deficiency

BIOCHEMICAL ANALYSIS
Galactosemia
Congenital Hypothyroidism
Congenital Adrenal Hyperplasia
G6PD
Cystic Fibrosis
Biotinidase

HPLC
Haemoglobin Variants S/F/A/C/D/E