The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely work together to help regulate cell growth and size, and also act as tumor suppressors. Affected individuals are born with one mutated copy of the TSC1 or TSC2 gene in each cell. However, enough protein is usually produced from the other, normal copy of the gene to regulate cell growth effectively. For some types of tumors to develop, a second mutation involving the other copy of the TSC1 or TSC2 gene must occur in certain cells.
Tuberous sclerosis complex is characterized by the growth of numerous noncancerous tumors in many parts of the body. These tumors can occur in the skin, brain, eyes, heart, lungs, kidneys, and other organs, in some cases leading to significant health problems. The condition is extremely variable and is associated with seizures, mental retardation, behavior problems, and skin abnormalities (not only tubers, but also lesions).
- Individuals with a clinical or suspected diagnosis of tuberous sclerosis.
Please note that a "backbone" of probes across the entire genome are included on the array for analytical and quality control purposes. Rarely, off-target copy number variants causative of disease may be identified that may or may not be related to the patient's phenotype. Only known pathogenic off-target copy number variants will be reported. Off-target copy number variants of unknown clinical significance will not be reported.
Submit only 1 of the following specimen types
Type: Whole Blood
Specimen Requirements:In EDTA (purple top) tube:
Infants (<2 years): 2-3 ml
Children (>2 years): 3-5 ml
Older Children & Adults: 5-10 ml.
Specimen Collection and Shipping: Ship sample at room temperature with overnight delivery.
Type: Isolated DNA
Specimen Requirements:In microtainer: 10 ug
Isolation using the QiagenTM Puregene kit for DNA extraction is recommended.
Specimen Collection and Shipping: Refrigerate until time of shipment in 100 ng/ul of TE buffer. Ship sample at room temperature with overnight delivery.
- Tuberous Sclerosis: Sequencing Panel.