IllnessCitrullinemia type II, differential diagnosis

Summary

Short information

A comprehensive differential diagnostic panel containing 10 curated genes [in part guideline-curated] for the suspected diagnosis Citrullinemia type II

CP9240

Number of genes

2 Accredited laboratory test

Examined sequence length

2,1 kb (Core-/Core-canditate-Genes)
3,2 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Gene panel

Selected genes

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SLC25A13	2031	603859	NM_001160210.2	AR
GALT	1140	606999	NM_000155.4	AR

Informations about the disease

Synonyms

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.

OMIM-Ps

Multiple OMIM-Ps

ICD10 Code

Bioinformatics and clinical interpretation

No text defined