Testing Criteria

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Testing criteria Disorders Genes Date
Urea Cycle Defects (UCD) 9 Gene Panel
  • Argininemia
    • ARG1 Deficiency
    • Arginase Deficiency
    • Hyperargininemia
  • Argininosuccinic Aciduria
    • Argininosuccinase Deficiency
    • Argininosuccinate Lyase Deficiency
    • Argininosuccinic Acid Lyase Deficiency
    • ASL Deficiency
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
    • Carbamoyl Phosphate Synthetase I Deficiency
    • Cps I Deficiency
  • Citrullinemia, Classic
    • Argininosuccinate Synthetase Deficiency
    • ASS Deficiency
    • Citrullinemia, Type I
    • Citrullinuria
  • Citrullinemia, Type II, Adult-Onset
    • Citrin Deficiency
  • Citrullinemia, Type II, Neonatal-Onset
    • Cholestasis, Neonatal Intrahepatic, Caused By Citrin Deficiency
  • Gyrate Atrophy Of Choroid And Retina
    • Gyrate Atrophy
    • Hyperornithinemia With Gyrate Atrophy Of Choroid And Retina
    • OAT Deficiency
    • OKT Deficiency
    • Ornithine Aminotransferase Deficiency
    • Ornithine Keto Acid Aminotransferase Deficiency
    • Ornithine-Delta-Aminotransferase Deficiency
  • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    • HHH Syndrome
    • Ornithine Translocase Deficiency
  • N-Acetylglutamate Synthase Deficiency
    • Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
    • N-Acetylglutamate Synthetase Deficiency
    • NAGS Deficiency
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
    • Ornithine Carbamoyltransferase Deficiency
    • Otc Deficiency
    • Valproate Sensitivity, Included
  • arginase 1
    • arginase, liver
  • argininosuccinate lyase
    • argininosuccinase
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
  • carbamoyl-phosphate synthase 1
    • carbamoyl phosphate synthetase i deficiency
    • carbamoyl-phosphate synthase 1, mitochondrial
    • carbamoyl-phosphate synthetase 1, mitochondrial
    • cps i deficiency
  • N-acetylglutamate synthase
  • ornithine aminotransferase
  • ornithine carbamoyltransferase
    • ornithine transcarbamylase
  • solute carrier family 25 member 13
    • citrin
    • mitochondrial aspartate glutamate carrier 2
    • solute carrier family 25 (aspartate/glutamate carrier) member 13
    • solute carrier family 25, member 13 (citrin)
  • solute carrier family 25 member 15
    • ornithine transporter, mitochondrial, 1
    • solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
2014
Urea Cycle Disorders 2014
Urea Cycle Disorders
  • Argininemia
    • ARG1 Deficiency
    • Arginase Deficiency
    • Hyperargininemia
  • arginase 1
    • arginase, liver
2014
Urea Cycle Disorders
  • Argininosuccinic Aciduria
    • Argininosuccinase Deficiency
    • Argininosuccinate Lyase Deficiency
    • Argininosuccinic Acid Lyase Deficiency
    • ASL Deficiency
  • argininosuccinate lyase
    • argininosuccinase
2014
Urea Cycle Disorders
  • Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
    • Carbamoyl Phosphate Synthetase I Deficiency
    • Cps I Deficiency
  • carbamoyl-phosphate synthase 1
    • carbamoyl phosphate synthetase i deficiency
    • carbamoyl-phosphate synthase 1, mitochondrial
    • carbamoyl-phosphate synthetase 1, mitochondrial
    • cps i deficiency
2014
Urea Cycle Disorders
  • Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
    • Ornithine Carbamoyltransferase Deficiency
    • Otc Deficiency
    • Valproate Sensitivity, Included
  • ornithine carbamoyltransferase
    • ornithine transcarbamylase
2014
Urea Cycle Disorders
  • N-Acetylglutamate Synthase Deficiency
    • Hyperammonemia Due To N-Acetylglutamate Synthetase Deficiency
    • N-Acetylglutamate Synthetase Deficiency
    • NAGS Deficiency
  • N-acetylglutamate synthase
2014
Urea Cycle Disorders
  • Citrullinemia, Classic
    • Argininosuccinate Synthetase Deficiency
    • ASS Deficiency
    • Citrullinemia, Type I
    • Citrullinuria
  • argininosuccinate synthetase 1
    • argininosuccinate synthetase
2014

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