IllnessHyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom, Differentialdiagnose

Summary

Short information

Comprehensive differential diagnostic panel for Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome comprising altogether 8 curated genes according to the clinical signs

HP9449

Number of genes

8 Accredited laboratory test

Examined sequence length

1,0 kb (Core-/Core-canditate-Genes)
15,2 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
SLC25A15	906	603861	NM_014252.4	AR
ACADM	1266	607008	NM_000016.6	AR
ARG1	969	608313	NM_000045.4	AR
CPS1	4503	608307	NM_001122633.3	AR
OAT	1320	613349	NM_000274.4	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

Synonyms

Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS)
Acyl-CoA dehydrogenase, medium chain, deficiency of (ACADM)
Argininemia (ARG1)
Carbamoylphosphate synthetase I deficiency (CPS1)
Gyrate atrophy of choroid + retina with/-out ornithinemia (OAT)
Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (SLC25A15)
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