What’s the right price for whole exome sequencing?
This is one of the most frequent questions I am being asked and one of the most searched on the internet: what's the price of whole exome sequencing (which consists in the sequencing of all human genes)? Of note, whole exome sequencing does not consist in the sequencing of the entire genetic heritage of an […]Continue reading
Phenotype expansion in rare disorders
By doing genetic testing through high-throughput Next Generation Sequencing, more specifically by doing whole exome sequencing and whole genome sequencing, patients affected by a well defined syndrome may be found to harbour a pathogenic mutation in a gene previously known to be associated to a different phenotype. Similarly, a patient with a certain syndrome caused […]Continue reading
Turnaround time in genetic testing for rare disorders
Patients and physicians sometimes complain about the turnaround time (TAT) of genetic testing. Now, it should be mentioned that genetic testing is technically complex, requiring several steps of sample manipulation. Especially for what concerns genetic testing for rare disorders, there's also a final step, maybe the most important one, which is the clinical interpretation of […]Continue reading