Branchio-oto-renal syndrome 1
Analysis ID 240
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Branchio-oto-renal syndrome 1
OMIM #113650
Clinical information Branchio-oto-renal syndrome is an autosomal dominant disorder characterized by sensorineural, conductive, or mixed hearing loss, structural defects of the outer, middle, and inner ear, branchial fistulas or cysts, and renal abnormalities ranging from mild hypoplasia to complete absence. Reduced penetrance and variable expressivity has been observed.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes EYA1
Analysis description Sequencing of the entire coding region of the EYA1 gene
Analysis indication Symptoms of branchio-oto-renal syndrome 1
Analysis time Appointed individually
Refund No
CGM laboratory name Laboratory for diagnostics of the hereditary disorders