TUBEROUS SCLEROSIS: CLINICAL EXOME PANEL (Sec. & CNVs) – 2 genes
Delivery time
3-4 weeks
Sample
Blood
The Tuberous Sclerosis panel analyzes the TSC1 and TSC2 genes, responsible for this multisystemic genetic disorder characterized by the development of hamartomas in various organs, including the brain, skin, kidneys, heart, and lungs. The disease is associated with neurological manifestations such as epilepsy, developmental delay, autism spectrum disorders, and cognitive difficulties, in addition to typical skin lesions (facial angiofibromas, hypopigmented spots) and renal angiomyolipomas. Mutations in TSC1 and TSC2 cause dysregulation of the mTOR pathway, which is essential for the control of cell growth and proliferation. Next-generation sequencing (NGS) with analysis of SNVs, indels, and CNVs allows for the detection of both point mutations and deletions or duplications responsible for the clinical spectrum of the disease.
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