BAP1 - uveal melanoma, hereditary
This test is available for the following conditions:
- Conditions > Oncogenetics > Uveal melanoma, hereditary
- Conditions > Vision impairment / blindness > Uveal melanoma, hereditary
This product is also part of the following panels:
- Hereditary cancer panel
- Intellectual disability panel with genome wide CNV analysis
- Mendelian inherited disorders panel with genome wide CNV analysis
- 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
- Skin disorders panel¹
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, FFPE, Isolated DNA, Buccal mucous membrane