Invitae Rhabdoid Tumor Predisposition Syndrome Panel
Use
The Invitae Rhabdoid Tumor Predisposition Syndrome Panel is designed to analyze the SMARCB1 and SMARCA4 genes. These genes are associated with rhabdoid tumor predisposition syndrome (RTPS), a rare and aggressive childhood cancer that commonly affects the kidneys and central nervous system. Genetic testing on these genes may not only help confirm a clinical diagnosis but also guide treatment and management strategies. Additionally, it can inform genetic testing for at-risk family members.
Special Instructions
This test is specifically intended for the identification of heritable germline mutations and is not suitable for detecting somatic mutations in tumor tissue.
Limitations
Certain structural rearrangements, such as inversions and translocations, may not be detected by this test. Additionally, variants located in complex genomic regions, such as short tandem repeats, may not be fully resolved. The test may also not cover specific non-coding regions, including promoters and non-coding exons, unless explicitly stated. Single-exon copy number events might sometimes be unreported due to complex sequence properties or isolated quality flaws.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)