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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessCitrullinemia type II, differential diagnosis


Short information

A comprehensive differential diagnostic panel containing 10 curated genes (partly guideline-curated) for the suspected diagnosis Citrullinemia type II

Number of genes
1 Accredited laboratory test
Examined sequence length
2,1 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

  • Alias: Citrin-Mangel mit Beginn im Erwachsenenalter Citrullinämie Typ II
  • Alias: Zitrullinämie Typ 2
  • Alias: Zitrullinämie mit Beginn im Erwachsenenalter, Typ 2
  • Alias: Zitrullinämie mit Beginn im Erwachsenenalter, Typ II
  • Alias: Zitrullinämie, adulte, Typ 2
  • Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
  • Argininosuccinic aciduria (ASL)
  • Carbamoylphosphate synthetase I deficiency (CPS1)
  • Cholestasis, benign recurrent intrahepatic (ATP8B1)
  • Cholestasis, benign recurrent intrahepatic, 2 (ABCB11)
  • Cholestasis, intrahepatic, of pregnancy, 1 (ATP8B1)
  • Cholestasis, progressive familial intrahepatic 1 (ATP8B1)
  • Cholestasis, progressive familial intrahepatic 2 (ABCB11)
  • Citrullinemia (ASS1)
  • Citrullinemia, adult-onset type II (SLC25A13)
  • Citrullinemia, type II, neonatal-onset (SLC25A13)
  • Dubin-Johnson syndrome (ABCC2)
  • Galactosemia (GALT)
  • Lysinuric protein intolerance (SLC7A7)
  • Ornithine transcarbamylase deficiency (OTC)
  • Pyruvate carboxylase deficiency (PC)
Heredity, heredity patterns etc.
  • AR
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined