NXTGNT, the Ghent University reference center for next generation sequencing, offers a range of Illumina next generation sequencing services and support to the academic community and its external customers.
Determines the whole DNA sequence at high resolution and allows for screening of mutations, copy number variations, inserts, etc.
The study of heritable changes in gene function that occur without a change in the sequence of the DNA.
Objective: To add evidence that massive parallel sequencing (MPS) is a valuable substitute for array comparative genomic hybridization (arrayCGH) with a resolution that is more appropriate for preimplantation genetic diagnosis (PGD) in translocation carriers.
Design: Study of diagnostic accuracy.
Setting: University hospital.
Patient(s): Fifteen patients with a balanced structural rearrangement were included in the study: eight reciprocal translocations, four Robertsonian translocations, two inversions, and one insertional translocation.