NeoGen FirstStep Lab

First Step IEM Panels

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First Step IEM Panels

First Step will screen for the following Inborn Errors of Metabolism (also known as Metabolic Disorders) by Tandem Mass Spectrometry and Biochemical Analysis. Newborns are screened from a dried blood spot, collected within 24 to72 hours of birth.

NeoGen Labs also offers First Step MS/MS which screens for only the 45 conditions detected by Tandem Mass Spectrometry.

Tandem Mass Spectrometry Panel

Acylcarnitine Profile - Fatty Acid Oxidation Disorders
Carnitine / Acylcarnitine Translocase Deficiency 3-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
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 » 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-Oxoprolinuria¹ Carbamoylphosphate Synthetase Deficiency¹ Citrullinemia Homocystinuria Hypermethioninemia Hyperammonemia, Hyperornithinemia, Homocitrullinuria Syndrome¹ Hyperornithinemia with Gyral Atrophy¹		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 Treatment with Benzoate, Pyvalic Acid, or Valproic Acid		Liver Disease Presence of EDTA coagulants in blood specimen Carnitine Uptake Deficiency
¹ There is a lower probability of detection of this disorder during the immediate newborn period.

Disorders Detected By Other Technologies