Genome Sequencing Service

Available as a diagnostic genetic test for patients with balanced translocations or inversions where characterisation of the breakpoint(s) will confirm/refute a genetic diagnosis [1]. The test price of £1750 includes low coverage (6-8x) genome sequencing and Sanger sequencing confirmation of the breakpoint(s). Please contact karen.stals@nhs.net to discuss individual cases.

[1] Lango-Allen H, Caswell R, Xie W, Xu A, Wragg C, Turnpenny PD, et al. Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans. J Med Genet. 2014; 51(4): 264-7. PMID: 24459211.