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
Bed files in Next Generation Sequencing
If you are interested, or directly involved, in Next Generation Sequencing applications for research or clinical diagnostics, especially in whole exome sequencing or targeted multigene panel testing, you've certainly heard of the so-called bed files. If you haven't heard of them yet, you'll soon need to learn what they are and how to use them! […]Continue reading