The MGL is pleased to announce that we now offer testing for Tuberous Sclerosis Complex (TSC).
We provide a comprehensive panel that includes sequencing and deletion/duplication analysis for the TSC1 and TSC2 gene. Single gene sequencing and deletion/duplication analysis is also available for each of the genes within our panels, however our panel provides a cost-effective method to obtain a result for your patient without the necessity of ordering multiple tests.
A new major gene, LZTR1, predisposing to schwannomatosis has been discovered using a sophisticated approach involving next-generation deep sequencing of evolutionary conserved sequences on chromosome 22q.
The study led and coordinated by Ludwine Messiaen, PhD, director of the UAB Medical Genomics Laboratory and Arkadiusz Piotrowski, PhD, Children’s Tumor Foundation Young Investigator Awardee was published in the February 2014 issue of Nature Genetics. For more information regarding the findings of this study, please click here.