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)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
NGS +
Gene panel
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