WES based on HPO-terms. This WES test is for a single person, however a trio-test is preferred. When standard diagnostics have failed, in addition to WES methylation profiling can be performed to screen multiple syndromes in one test. 
| Genes | ALL EXONS |
|---|---|
| Lab method | Whole Exome Sequencing (WES) |
| Turnaround time | 4 months |
| Location | Location AMC |
| Price | € 1.150,00 |
