Townes-Brocks Syndrome
Analysis ID 46
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Townes-Brocks Syndrome
OMIM #107480
Clinical information Townes-Brocks Syndrome is a genetic disorder characterized by triphalangeal thumbs, imperforate anus, sensorineural deafness, preauricular pits, anomalies of the hands and feet, including fusion of metatarsals, syndactyly absent bones, and supernumerary digits.
Type of analysis molecular
Type of biological material 5 ml peripheral blood collected in the EDTA tube
Analyzed genes SALL1
Analysis description Analysis of the R276X mutation in the SALL1 gene
Analysis indication Symptoms of Townes-Brocks Syndrome
Analysis time 3-4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders