Deutsch
IllnessZitrullinämie Typ I, Differentialdiagnose
Summary
Short information
Comprehensive differential diagnostic panel for Citrullinemia type I comprising 5 curated genes according to the clinical signs
ID
ZP9240
Number of loci
| Loci type | Count |
|---|---|
| Gen | 5 |
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
7,3 kb (Extended panel: incl. additional genes)
7,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Test material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Loci panel
Informations about the disease
Clinical Comment
illness_ClinicalComment_ZP9240
Synonyms
- Alias: ASS-Mangel
- Alias: Argininosuccinat-Synthase-Mangel
- Alias: Citrullinämie Typ I
- Alias: Klassische Zitrullinämie
- Allelic: Pulmonary hypertension, neonatal, susceptibility to (CPS1)
- Argininosuccinic aciduria (ASL)
- Carbamoylphosphate synthetase I deficiency (CPS1)
- Citrullinemia (ASS1)
- Citrullinemia, adult-onset type II (SLC25A13)
- Citrullinemia, type II, neonatal-onset (SLC25A13)
- Dihydrolipoamide dehydrogenase deficiency (DLD)
- Ornithine transcarbamylase deficiency (OTC)
- Pyruvate carboxylase deficiency (PC)
Heredity, heredity patterns etc.
- AR
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
Bioinformatics and clinical interpretation
No text defined