NGS Segmental overgrowth disorders
This analysis is preferably performed on DNA isolated from affected tissue.
This 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.
The Segmental overgrowth/vascular malformations gene panel:
Dx on somatic variants are found in segmental overgrowth and
vascular malformations. Sequencing is performed with a
higher coverage than with standard panels, allowing somatic
variants to be detected with an allele percentage of up to 1%.
This analysis is preferably performed on DNA isolated
from affected tissue, 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,
to assure 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.
