SMARCA4 Sequencing and Deletion/Duplication
Also known as: Small cell carcinoma of ovary, SCCOHT, Rhabdoid tumor, RTPS, RTPS2
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))
Special Instructions
Sample reports and specific variants analyzed are available at QuestHereditaryCancer.com. If a familial mutation is known, consider the Hereditary Cancer Single Site(s) test (test code 93945). Consultation with a Quest genetic counselor via Quest Genomics Client Services (1.866.GENE.INFO) is available. Coverage and out‑of‑pocket costs are verified upon receiving a complete order; if estimated responsibility exceeds $100, the provider and/or patient will be notified prior to test initiation. ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/smarca4-sequencing-and-deletion-duplication?utm_source=openai))
Limitations
Not explicitly stated in the FAQ; refers to methods and limitations section of the genetic testing report for details. Interpretation of variants of uncertain significance (VUS) requires consideration of personal and family history, and variant classification may change over time. Annual review is recommended. ([questdiagnostics.com](https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/smarca4-sequencing-and-deletion-duplication?utm_source=openai))
Methodology
NGS
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Not provided.
Other tests from different labs that may be relevant