[Genome-wide diagnostics; after the results the real work begins]. / Genoombrede diagnostiek.

ABSTRACT

Introduction of new genetic test technologies in the last decade have accelerated genetic diagnosis in many medical specialties and have increased diagnostic yield considerably. SNP-arrays have been established as first tier diagnostic tools, more and more being replaced by next generation sequencing strategies, like targeted genomic panels and whole exome sequencing. We present the diagnostic work-up of a clinical case, a girl with congenital vertebral and rib anomalies. This case illustrates the complexity of genetic tests and the need for knowledge and experience to interpret the results. Intensive collaboration between pediatrician, clinical geneticist and laboratory specialist is mandatory, as is long-term commitment to involve parents in the diagnostic journey .