Tuberous Sclerosis Complex (TSC) Panel
Use
This test is intended for individuals with a suspected germline cause of tuberous sclerosis complex. It is designed for individuals with clinical or suspected diagnosis of tuberous sclerosis complex, those having a family member with presumed tuberous sclerosis complex without previous genetic testing, or individuals without access to specific variant information for a family member with genetically-confirmed tuberous sclerosis complex. This genetic test can help in confirming the diagnosis, providing information for genetic counseling, and possibly aiding in treatment decisions.
Special Instructions
Not provided.
Limitations
This test has limitations in detecting somatic variants as it is designed to identify germline mutations associated with tuberous sclerosis complex. Variants outside the target regions, certain types of mutations, and variants in regions with low coverage may not be detected. Additionally, environmental factors and other genetic or non-genetic factors may influence the clinical manifestation and penetrance of the disorder.
Methodology
NGS (Targeted)
Biomarkers
TSC1, TSC2
Gene
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided