Casandra

Casandra Test Code AR73069Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3002096CPT Codes 81265, 81405, 81406, 81407

Tuberous Sclerosis Complex Panel, Sequencing and Deletion/Duplication, Fetal

Also known as: TSC NGS FE

Clinical Use

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

Not provided.

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.

Test Details

Methodology

NGS (Targeted)

Biomarkers

TSC1, TSC2

Gene

SNV/Indel

Mutation • Categorical (e.g., Positive / Negative / Indeterminate)

Result Turnaround Time

14-21 days

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.