SMARCB1 - Rhabdoid tumor predisposition syndrome type 1
This test is available for the following conditions:
- Conditions > Oncogenetics > Rhabdoid tumor predisposition syndrome
This product is also part of the following panels:
- WES hereditary cancer (% *)
- WES intellectual disability (% *)
- WES Mendelian inherited disorders (% *)
- WES neurological pain disorders¹ (% *)
- WES short stature/skeletal dysplasia (% *)
- WES skin disorders¹ (% *)
- WES sonic hedgehog medulloblastoma (% *)
* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)
Turnaround time
3 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
OMIM:
601607
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane