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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessRenal coloboma syndrome

Request form illness

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)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
PAX21254AD

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