VHL - Von Hippel-Lindau syndrome
This test is available for the following conditions:
- Conditions > Endocrine > Von Hippel-Lindau syndrome
- Conditions > Renal / Nephrological > Von Hippel-Lindau syndrome
- Conditions > Oncogenetics > Von Hippel-Lindau syndrome
- Conditions > Vision impairment / blindness > Von Hippel-Lindau syndrome
This product is also part of the following panels:
- panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
- WES ciliopathies (100.0% *)
- WES comprehensive preconception carrier test ¹
- WES hereditary cancer (100.0% *)
- WES Mendelian inherited disorders (100.0% *)
- WES skin disorders¹ (100.0% *)
- WES vision disorders (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:
608537
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, FFPE, Isolated DNA, Buccal mucous membrane