BAP1 - BAP1-associated tumor syndrome
This test is available for the following conditions:
- Conditions > Oncogenetics > BAP1-tumor predisposition syndrome
This product is also part of the following panels:
- panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
- panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
- panel Melanoma, extensive (CDKN2A, CDK4, MITF p.(Glu318Lys), BAP1, POT1, TERT promoter)¹
- WES hereditary cancer (100.0% *)
- WES intellectual disability (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES skin disorders¹ (100.0% *)
* % 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
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Method
- Sequence analysis of all coding exons and flanking intron-exon boundaries
- Deletion/duplication analysis (MLPA)
OMIM:
603089
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane