Tuberous sclerosis: catching mosaicism and intronic mutations

Recommended testing at Breda Genetics for this condition (also to test for mosaicism): Tuberous sclerosis (TSC1, TSC2) If negative: MLPA analysis (TSC1, TSC2 gene). If negative: Exonic ultra-deep sequencing (600x) and SNaPshot analysis Summary Tuberous Sclerosis Complex (TSC), also called Bourneville syndrome, is a multisystem disorder with variable expressivity characterized by hamartomas in multiple organ […]

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