Use

This test is used to identify individuals with autosomal dominant rhabdoid tumor predisposition syndrome type 2 by detecting single‑nucleotide variants, deletions, and duplications in the SMARCA4 gene, which encodes the transcription activator BRG1 protein. It is particularly indicated for individuals with a personal or family history of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT). Genetic counseling and informed consent are strongly recommended prior to testing. Results classify variants as pathogenic, likely pathogenic, or VUS, with guidance provided in the report; annual review of variant interpretation is advised. ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/smarca4-sequencing-and-deletion-duplication?utm_source=openai))

Not provided.