Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication

Also known as: TSC NGS

Clinical Use

Use

This test is used for diagnostic testing of individuals with a clinical diagnosis or suspicion of tuberous sclerosis complex (TSC), as well as presymptomatic testing for individuals at risk of TSC based on family history. TSC is a multisystem genetic disorder characterized by the formation of benign tumors in organs such as the skin, brain, and kidneys, leading to significant health complications. The disease follows an autosomal dominant inheritance pattern with complete penetrance and variable expressivity. This panel analyzes the TSC1 and TSC2 genes known to be associated with TSC.

Special Instructions

Not provided.

Limitations

This test detects variants within the coding regions and intron-exon boundaries of TSC1 and TSC2. Deletions/duplications/insertions of any size may not be detected by massively parallel sequencing. Regulatory region variants and deep intronic variants will not be identified. Precise breakpoints for large deletions or duplications are not determined, and single exon deletions/duplications may not be detected. The test is not intended to detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, mitochondrial DNA mutations, or repeat expansions.

Test Details