deletion/duplication

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

Read More

Feel free to call us to book your appointment

CONTACT FORM

CONTACT FORM

Enter Email
Confirm Email
Invio

Subscribe to our newsletter to receive news on the world of genetics.

We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.

Newsletter Signup

Newsletter Signup

First
Last