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	Heredity
SLC25A15	906	603861	AR
ACADM	1266	607008	AR
ARG1	969	608313	AR
CPS1	4503	608307	AR
OAT	1320	613349	AR
OTC	1065	300461	XLR
PC	3537	608786	AR
SLC7A7	1536	603593	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

E72.4

Bioinformatics and clinical interpretation

No text defined