IllnessCitrin deficiency, neonatal intrahepatic cholestasis; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for Citrin deficiency, neonatal intrahepatic cholestasis, containing 5 guideline-curated and altogether 11 curated genes according to the clinical signs

CP9239

Number of genes

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

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
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