von Hippel-Lindau disease

von Hippel-Lindau (VHL) disease is a neurocutaneous disorder and hereditary cancer syndrome. VHL gene testing may guide screening and early detection measures, which can lead to improved outcomes.

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Test Code: 2602 Test Name: VHL specific site analysis TAT 7-14 days Gene: 1
Test Code: 2604 Test Name: VHL del/dup TAT 7-14 days Gene: 1
Test Code: 2606 Test Name: VHL seq and del/dup TAT 14-21 days Gene: 1

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Mutation Detection Rate

This test can detect >99.9% of described mutations in VHL, when present (analytic sensitivity).

Test Description

VHL coding exons 1-3 and well into the 5’ and 3’ ends of all the introns and untranslated regions are analyzed by sequencing. Gross deletion/duplication analysis determines gene copy number for coding exons 1-3. Clinically significant intronic findings beyond 5 base pairs are always reported. Intronic variants of unknown or unlikely clinical significance are not reported beyond 5 base pairs from the splice junction. Genomic deoxyribonucleic acid (gDNA) is isolated from the patient’s specimen using standardized methodology and quantified. Sequence enrichment of the targeted coding exons and adjacent intronic nucleotides is carried out by a bait-capture methodology, using long biotinylated oligonucleotide probes followed by polymerase chain reaction (PCR) and next generation sequencing (NGS). Sanger sequencing is performed for any regions missing or with insufficient read depth coverage for reliable heterozygous variant detection. Reportable small insertions and deletions, potentially homozygous variants, variants in regions complicated by pseudogene interference, and single nucleotide variant calls not satisfying 100x depth of coverage and 40% het ratio thresholds are verified by Sanger sequencing. Gross deletion/duplication analysis of VHL using read-depth from NGS data is also performed. Any copy number changes detected by NGS are confirmed by targeted chromosomal microarray and/or multiplex ligation-dependent probe amplification (MLPA).

 

1. Mu W, et al. Sanger confirmation is required to achieve optimal sensitivity and specificity in next-generation sequencing panel testing. J Mol Diagn. 2016. 18(6):923-932.

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