Uveal melanoma, hereditary

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
• Mendelian inherited disorders panel
• 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

---