Tuberous Sclerosis Complex Panel (TSC1 and TSC2)
Also known as: Bourneville phakomatosis, cerebral sclerosis, epiloia, sclerosis tuberosa, tuberose sclerosis
Use
This test is used to identify individuals with autosomal dominant tuberous sclerosis complex (TSC) by detecting single-nucleotide variants, deletions, and duplications in the TSC1 and TSC2 genes. It is indicated for individuals with a suspected diagnosis of TSC who lack sufficient clinical features to confirm diagnosis. A positive result indicates detection of a pathogenic or likely pathogenic variant in TSC1 or TSC2, consistent with TSC, though not all clinical features may be present. A negative result does not rule out TSC, and variants of uncertain significance (VUS) should be interpreted in context; variant interpretations may evolve over time. Genetic counseling is recommended and informed consent is required.
Special Instructions
Informed consent is required. Genetic counseling is recommended. Consider testing the youngest affected family member when possible. If a familial mutation is known, alternative testing via a single-site familial mutation test (code 93945) may be appropriate. Family Insight segregation testing is available. Laboratory follows ACMG variant classification protocols. Contact Quest Genomics Client Services for specialist support.
Limitations
Test is limited to TSC1 and TSC2 genes and does not analyze other hereditary cancer genes. Not all gene regions may be covered and rare or novel variants may not be detected. False positives/negatives may occur; results must be interpreted in clinical context. VUS interpretations are subject to change over time; confirmation of copy number variants may require an additional 7–10 days via orthogonal method. Additional genetic testing may be warranted based on history.
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Extracted DNA
Volume
Not provided
Minimum Volume
Not provided