Invitae Tuberous Sclerosis Complex Panel
Use
This test analyzes the TSC1 and TSC2 genes associated with tuberous sclerosis complex (TSC). TSC is characterized by benign tumors in various organs, seizures, intellectual disability, and increased cancer risk in the brain and kidneys. Genetic testing can confirm a diagnosis, guide treatment, management decisions, and testing of at-risk relatives.
Special Instructions
This test is designed for heritable germline mutations and is not suitable for the detection of somatic mutations in tumor tissue. For complete test details, consult the test definition on our website.
Limitations
The test cannot detect somatic mutations or certain structural rearrangements (e.g., inversions, translocations). Detection of single-exon copy number events may fail due to sequence properties or data quality. Variants outside analyzed regions are not detected.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)
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