When Should Whole Exome Sequencing Be Considered? Not every diagnostic challenge is caused by a lack of genetic testing. Quite often, the issue is that the most appropriate genetic tests have not been performed for the clinical situation at hand. Although → Whole Exome Sequencing (WES) is now one of the most comprehensive diagnostic tools
When the key variable is not the size of the test Many children referred for genomic testing have already gone through a long diagnostic pathway. Developmental delay.Autism spectrum disorder.Epilepsy.Language regression.Hypotonia.Unexplained neurological findings. By the time genomic sequencing is discussed, multiple evaluations are often already available: MRI scans.Metabolic investigations.Targeted genetic tests.Gene panels. In some cases, → Whole Genome
When choosing between a gene panel and whole exome sequencing A patient with multiple symptoms.Sometimes overlapping clinical features. Different diagnostic hypotheses are considered.Each one pointing to a different group of genes. Initial genetic tests may have already been performed.Sometimes targeted.Sometimes inconclusive. At this stage, a decision becomes necessary: → should the analysis remain focused on
A child with multiple symptoms.Sometimes also malformations. Different systems involved.No single pattern that explains everything. Biochemical tests, imaging, and other investigations have already been performed.Some results are normal.Others suggest possible directions, but a unifying diagnosis remains elusive. At this stage, high-throughput sequencing enters the picture.Most often, pediatricians and neuropsychiatrists recommend → Whole exome sequencing (WES).
