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

IllnessBranchio-oto-renal syndrome, differential diagnosis

Summary

Short information

A curated panel containing 3 genes for the comprehensive analysis of the genetically caused forms of the branchio-oto-renal syndrome

ID
BP0080
Number of genes
3 Accredited laboratory test
Examined sequence length
4,9 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
EYA11779AD
SIX1855AR
SIX52220AD

Informations about the disease

Clinical Comment

Branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of auricle with pre-auricular pits, conductive/sensorineural hearing impairment), renal malformations (urinary tree malformation, renal hypoplasia/agenesis, renal dysplasia, renal cysts)

 

Synonyms
  • Alias: Melnick-Fraser syndrome (EYA1)
  • Allelic: Anterior segment anomalies with/-out cataract (EYA1)
  • Allelic: Deafness, AD 23 (SIX1)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • Otofaciocervical syndrome (EYA1)
Heredity, heredity patterns etc.
  • AD
  • AR
ICD10 Code
Q87.8

Bioinformatics and clinical interpretation

No text defined