Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal
Also known as: TSC NGS FE
Use
The Tuberous Sclerosis Complex (TSC) Panel is intended for testing fetuses with a suspected cardiac rhabdomyoma on ultrasound or those at risk for tuberous sclerosis complex based on family history. TSC is a multisystem genetic disorder characterized by the growth of numerous benign tumors in multiple organs, including skin, brain, and kidneys, potentially leading to significant health complications. The test detects pathogenic germline variants in the TSC1 and TSC2 genes, which are responsible for TSC, an autosomal dominant condition with approximately 66% of cases being de novo. The clinical sensitivity for detecting these variants is estimated at 95%.
Special Instructions
The test requires the collection of fetal specimens with two T-25 flasks at 90% confluent of cultured amniocytes or chorionic villus sampling, and a maternal whole blood specimen to rule out maternal cell contamination. It is essential that both components be submitted to ensure accurate interpretation of results. Maternal specimens improve test accuracy by allowing maternal cell contamination analysis. The test is not New York state approved.
Limitations
A negative result does not exclude the diagnosis of tuberous sclerosis complex. The test only detects variants in the coding regions and intron-exon boundaries of the targeted genes. It may not identify deletions/duplications/insertions of any size outside these regions. Regulatory region variants and deep intronic variants are not detected. The methodology may have reduced sensitivity for insertions/duplications/deletions greater than 10 base pairs, and single exon deletions may not be detected due to breakpoint issues. Technical limitations include potential interference from pseudogenes and homologous regions. The test does not detect low-level mosaic or somatic variants, gene conversion events, complex inversions, translocations, or mitochondrial DNA mutations.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Tissue (Unknown)
Volume
Not provided
Minimum Volume
Not provided
Container
T-25 flask
Collection Instructions
Fill flasks with culture media. Transport two T-25 flasks at 90% confluence of cultured amniocytes or chorionic villus sampling filled with culture media. Backup cultures must be retained at the client's institution until testing is complete.
Storage Instructions
CRITICAL ROOM TEMPERATURE. Must be received within 48 hours of shipment due to the viability of cells.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 48 hours |
| Refrigerated | Unacceptable |
| Frozen | Unacceptable |