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:

• Ciliopathies panel
• Comprehensive preconception carrier test panel¹
• Hereditary cancer panel
• Mendelian inherited disorders panel
• panel hereditary renalcancer (SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, PTEN, FLCN, MET, FH, BAP1)
• Skin disorders panel¹
• Vision disorders panel

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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