Tandem Mass Spectrometry Panel

• Acylcarnitine Profile - Fatty Acid Oxidation Disorders
  -Carnitine / Acylcarnitine Translocase Deficiency
  - Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency
  - Medium Chain Acyl-CoA Dehydrogenase Deficiency
  - Neonatal Carnitine Palmitoyl Transferase Deficiency Type II
  - Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  - Carnitine Palmitoyl Transferase Deficiency Type I1
  - 2,4-Dienoyl-CoA Reductase Deficiency1
  - Multiple Acyl-CoA Dehydrogenase Deficiency
  - Short-chain Acyl-CoA Dehydrogenase Deficiency
  - Trifunctional Protein Deficiency
  - Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
  
  
• Acylcarnitine Profile - Organic Acid Disorders
  - 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
  • 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
- Oxoprolinuria
- Carbamoylphosphate Synthetase Deficiency
- Citrullinemia
- Homocystinuria
- Hypermethioninemia
- Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome
- Hyperornithinemia with Gyral Atrophy
- Maple Syrup Urine Disease
- Phenylketonuria
• Classical / Hyperphenylalaninemia
• Biopterin Cofactor Deficiencies
- Tyrosinemia
• Transient Neonatal Tyrosinemia
• Tyrosinemia Type I1
• Tyrosinemia Type II
• Tyrosinemia Type III
  
  
• Amino Acid Profile - Other

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

Disorders Detected By Other Technologies

• Galactosemia
• Congenital Hypothyroidism
• G6PD
• Congenital Adrenal Hyperplasia
• Cystic Fibrosis