Tuberous Sclerosis Gene Panel, Varies
Use
The Tuberous Sclerosis Gene Panel is useful for establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). It identifies pathogenic variants within the TSC1 and TSC2 genes, which are associated with TSC, allowing for predictive testing of at-risk family members. The test is also applicable for prenatal diagnosis in a fetus presenting with ultrasound findings suggestive of TSC, such as cardiac rhabdomyomas. Identification of a disease-causing variant aids in diagnosis, prognosis, clinical management, familial screening, and genetic counseling for TSC.
Special Instructions
Prenatal specimens submitted for this test may require additional culturing charges. Maternal cell contamination testing is performed for cord blood specimens with an accompanying maternal blood specimen. Additional analyses using STR may be billed separately. Skin biopsy or cultured fibroblast specimens entail a fibroblast culture charge, with notification to the client if viable cells are not obtained.
Limitations
While this test accurately detects single nucleotide and copy number variants in the TSC1 and TSC2 genes, it may not capture all genetic variations associated with tuberous sclerosis complex. It relies on next-generation sequencing, thus variants outside the targeted regions may not be detected. Testing assumes adequate sample quality and may be impacted by contamination or insufficient DNA quantity.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
Not provided.
Related Documents
For more information, please review the documents below
Specimen
Amniotic Fluid
Volume
Not provided
Minimum Volume
Not provided
Collection Instructions
If amniotic fluid specimen or cultured amniocytes are received, amniotic fluid culture will be performed at an additional charge.