The use of next‐generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper*.

Firstly, much of globin gene testing required for pre- and neonatal diagnosis requires a rapid turnaround time and analysis of a small number of genes, making it unwieldy and unnecessary to be testing all of the genes on a panel. Diamond-Blackfan anaemia</td><td>AD</td></tr><tr><td><italic>RPL11</italic></td><td>1p36.11</td><td>Ribosomal protein L11</td><td>NM 000975.5</td><td>Diamond-Blackfan anaemia 7</td><td>AD</td></tr><tr><td><italic>RPL15</italic></td><td>3p24.2</td><td>Ribosomal protein L15</td><td>NM 002948.5</td><td>? Globin gene variants are the commonest cause of inherited anaemia, and all patients should be formally assessed for their presence, using a combination of haemoglobin analysis and specific genetic tests for suspected variants, and by inclusion on NGS panels, depending on local practice. Finally, NGS-based genetic testing is useful for the identification of complex modes of inheritance that are recognised to account for at least 4% of diagnosed Mendelian conditions.20 Recommendations NGS should only be used in cases where acquired causes are thought to be very unlikely (IA) Appropriate consent should be obtained (IA) Globin gene abnormalities should be considered and investigated appropriately before NGS is carried out, including haemoglobin analysis and sequencing of individual globin genes, depending on the genetic distribution that is already known in the local population. [Extracted from the article]