Tuberous Sclerosis Complex (TSC) Deletion/Duplication Testing via MLPA
Use
This test is designed for individuals exhibiting features indicative of Tuberous Sclerosis Complex (TSC) or those with a clinical diagnosis suspected of having a genetic cause. It is also suitable for individuals who have family members with presumed TSC without prior genetic testing, or for those who lack specific variant information for a family member who has a genetically confirmed TSC. The test is not intended for detecting somatic variants in tumor tissue and is recommended for individuals with negative TSC1/TSC2 sequencing results but who still exhibit clinical features of TSC.
Special Instructions
Not provided.
Limitations
This assay is not appropriate for detecting somatic variants in tumor tissue and is not suitable for individuals seeking information about their tumor makeup. Individuals who have already undergone sequencing of the TSC1/TSC2 genes and returned negative but continue to demonstrate clinical features of TSC are potential candidates for this testing approach.
New York Approved
Methodology
Other (Multiplex Ligation-Dependent Probe Amplification Assay)
Biomarkers
TSC1
GeneTSC2
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