Genetic testing for Tuberous Sclerosis

posted Sep 20, 2016, 2:42 AM by Vinod Scaria   [ updated Sep 20, 2016, 2:49 AM ]
Tuberous sclerosis is a rare disease which characterized by the growth of numerous benign tumours in different parts of the body. The tumours largely arise in the skin, brain, kidneys, and other organs. Almost all people affected have characteristic skin abnormalities, which usually present as patches of light-colored skin, areas of raised and thickened skin, and growths under the nails.

The disease is estimated to affect approximately 1 in 6,000 people worldwide.

Test description
Screening of exons of TSC1 and TSC2 gene using capillary sequencing. 

Please note: We would have a longer turnaround time for the initial patients being screened for this gene. The present expected turnaround time is estimated to be 12-24 weeks.