IllnessRenal coloboma syndrome
Summary
Short information
Curated single gene sequence analysis according to the clinical suspicion Renal coloboma syndrome
ID
RS0030
Number of genes
1
Accredited laboratory test
Examined sequence length
1,3 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (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 |
---|---|---|---|
PAX2 | 1254 | AD |
Informations about the disease
Clinical Comment
Optic nerve dysplasia + renal hypodysplasia
Synonyms
- Alias: Coloboma of optic nerve with renal disease (PAX2)
- Alias: Papillo-renal syndrome (PAX2)
- Alias: Papillorenales Syndrom (PAX2)
Heredity, heredity patterns etc.
- AD
OMIM-Ps
ICD10 Code
Q87.8
Bioinformatics and clinical interpretation
No text defined