Von Hippel-Lindau syndrome

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

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