IllnessCitrin deficiency, neonatal intrahepatic cholestasis; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Citrin deficiency, neonatal intrahepatic cholestasis, comprising 11 curated genes according to the clinical signs

CP9239

Number of loci

Loci type	Count
Gen	11

Accredited laboratory test

Examined sequence length

2,1 kb (Core-/Core-canditate-Genes)
28,9 kb (Extended panel: incl. additional genes)

Analysis Duration

on request

Test material

EDTA-anticoagulated blood (3-5 ml)

Diagnostic indications

NGS +

Loci panel

Gen

Name	Exon Length (bp)	OMIM-G	Referenz-Seq.	Heredity
SLC25A13	2031	603859	NM_001160210.2	AR
ABCB11	3966	603201	NM_003742.4	AR
ABCC2	4638	601107	NM_000392.5	AR
ASL	1395	608310	NM_000048.4	AR
ASS1	1239	603470	NM_000050.4	AR
ATP8B1	3756	602397	NM_005603.6	AR
CPS1	4503	608307	NM_001122633.3	AR
GALT	1140	606999	NM_000155.4	AR
OTC	1065	300461	NM_000531.6	XLR
PC	3537	608786	NM_000920.4	AR
SLC7A7	1536	603593	NM_001126105.3	AR

Informations about the disease

Clinical Comment

s.a. Zitrullinämie Typ II, SLC25A13-Mutationen

Synonyms

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