Comparison of DNA Array Platform vs DNA Sequencing as Genetic Diagnosis Tools for Familial Hypercholesterolemia

摘要

The report by Blesa et al. (1) compares 2 methods, DNA sequencing and DNA arrays [as previously reported by us (2)], for the genetic diagnosis of familial hypercholesterolemia (FH).Lipochip? (Lacer SA), the first DNA array-based commercial platform for the genetic diagnosis of FH, is now available and is funded by the Spanish Health Service. The procedure is as follows: blood samples are shipped to a central laboratory, where DNA is analyzed with the first CE-marked (approved for sale in the European Community) DNA array for in vitro diagnosis in Europe. Samples with a negative result undergo large rearrangement analysis by quantitative fluorescence-based multiplex PCR (3). If this analysis is also negative, DNA sequencing is carried out to identify new disease-causing variations. The results are compiled in a full report that is sent to the patient’s physician.Most of the comments by Blesa et al. on our DNA array refer to an earlier version developed for research only (v1.0) (2). The …