Common genomic diagnostic tests

Genetic testing has become an integral part of diagnosis, risk stratification, and treatment strategy in patients with myeloid cancers.¹ While whole exome and whole genome sequencing are becoming increasingly accessible, classic genetic tests, such as Sanger sequencing and polymerase chain reaction (PCR), remain the standard approach for many clinical practices due to their high sensitivity, relatively low costs, and wide availability.¹

At present, no single test is able to detect the wide range of potential genetic abnormalities that may be inherited or arise de novo in a patient; therefore, a multiform approach is adopted to generate an accurate and reliable genetic readout.¹

In view of this, the MDS Hub is proud to present a visual summary of the genomic diagnostic techniques commonly used in clinical practice. We outline the use of each technique, as well as their associated advantages and disadvantages.