Thread by @DrTiffanyL

#ASH22 Bone marrow failure syndromes: diagnostic principles in 2022. Starting with Sara Lewis, a genetic counselor in hematology. Follow this tweet for more. 1/n

Sara reminds us that she feels patients think more about their family history as they see her draw the pedigree. Time for me to start doing this! #phodocs #ASH22 #pearl 2/n

Here are the options for diagnostic workup - genetic tests can be done from somatic genes or germline! #ASH22 3/n

For the #ASHtrainees - here is a great description of the various ways you can do testing and what their basic differences are! #ASH22 4/n

Every time I hear this SAMD9L and monosomy7 story I am amazed at how much we can learn in a short amount of time. This patient had resolution of her mutation by 49 months with observation! #ASH22 5/n

Similarly, the TP53 somatic mutation story in patients with #SchwachmanDiamond also with the possibility of resolution. #ASH22 6/6