NGS Segmental overgrowth and Vascular malformations (somatic)
This analysis is preferably performed on DNA isolated from affected tissue, which has the greatest chance of detecting the causal variant.
Because the DNA yield from biopsies is often low, we also like to receive (DNA isolated from) blood for control tests.
| Panel | NGS Segmental overgrowth and Vascular malformations (somatic) |
|---|---|
| Location | Location AMC |
| Lab method | Targeted NGS |
| Turnaround time | 3 months |
| Cost | €895,00 |
|---|
The Segmental overgrowth/vascular malformations gene panel contains several genes in which somatic variants are found in segmental overgrowth and vascular malformations. Sequencing is performed with the highest coverage, allowing somatic variants to be detected with an allele percentage of up to 1%.
IIf there is suspicion of a somatic variant, this analysis is preferably performed on DNA isolated from affected tissue (biopsy), which has the greatest chance of detecting the causal variant.
NB: We perform a quality control in our tests using a so-called SNPCHECK, where the genotypes of 12 SNPs in original material and the sequence results are compared, so that we can be sure that no mix-ups have occurred in the process. Because the DNA yield from biopsies is often low, we also like to receive (DNA isolated from) blood for this genotyping.
See panel for the composition of the panel and additional information.