Beckwith-Wiedemann syndrome, BWS
Analysis ID 284
Analysis location “GENESIS” Centre for Medical Genetics
Diagnosed illness Beckwith-Wiedemann syndrome, BWS
OMIM #130650
Clinical information Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable and some cases may lack the hallmark features of the syndromes such as omphalocoele, umbilical hernia, macroglossia, and gigantism.
Type of analysis Molecular
Type of biological material 5 ml of peripheral blood collected in an ETDA tube; DNA sample
Analyzed genes 11p15 locus
Analysis description Metylation dependant MLPA analysis of the 11p15 locus
Analysis indication Symptoms of Beckwith-Wiedemann syndrome
Analysis time 3 – 4 weeks
Refund Yes
CGM laboratory name Laboratory for diagnostics of the hereditary disorders