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
Mental retardation: panel or whole exome sequencing?
To start with isolated mental retardation (i.e. patients which are affected by mental retardation only, with no other clinical signs or very mild additional traits) to finish with highly syndromic cognitive delay in patients who shows several malformations and/or metabolic imbalances, mental retardation is possibly the largest chapter in rare genetic disorders. Today, we know […]Continue reading