Untitled Document
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Neonetal Screening
Tandem Mass Spectrometry Panel
Acylcarnitine Profile - Fatty Acid Oxidation Disorders
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Carnitine / Acylcarnitine Translocase Deficiency
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Hydroxy Long Chain Acyl-CoA Dehydrogenase Deficiency
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Medium Chain Acyl-CoA Dehydrogenase Deficiency
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Neonatal Carnitine Palmitoyl Transferase Deficiency Type II
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Very Long Chain Acyl-CoA Dehydrogenase Deficiency
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Carnitine Palmitoyl Transferase Deficiency Type I1
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2,4-Dienoyl-CoA Reductase Deficiency1
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Multiple Acyl-CoA Dehydrogenase Deficiency
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Short-chain Acyl-CoA Dehydrogenase Deficiency
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Trifunctional Protein Deficiency
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Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
Acylcarnitine Profile - Organic Acid Disorders
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Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
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Glutaric Acidemia Type I
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Isobutyryl-CoA Dehydrogenase Deficiency
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Isovaleric Acidemia
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2-Methylbutyryl-CoA Dehydrogenase Deficiency
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3-Methylcrotonyl-CoA Carboxylase Deficiency
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3-Methylglutaconyl-CoA Hydratase Deficiency
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Methylmalonic Acidemias
Methymalonyl-CoA Mutase Deficiency
Some Adenosylcobalamin Synthesis Defects
Maternal Vitamin B12 Deficiency
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Mitochondrial Acetoacetyl-CoA Thiolase Deficiency
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Propionic Acidemia
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Multiple CoA Carboxylase Deficiency
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Malonic Aciduria
Amino Acid Profile - Amino Acid Disorders
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Argininemia
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Argininosuccinic Aciduria
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Oxoprolinuria
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Carbamoylphosphate Synthetase Deficiency
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Citrullinemia
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Homocystinuria
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Hypermethioninemia
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Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome
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Hyperornithinemia with Gyral Atrophy
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Maple Syrup Urine Disease
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Phenylketonuria
Classical / Hyperphenylalaninemia
Biopterin Cofactor Deficiencies
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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
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