Ugeskr Læger 2017;179:V03170179
The cause of cytopenia of undetermined significance can often be found by using next generation sequencing
Patients with persistent cytopenia are frequently referred to the haematological departments , and a diagnosis of myelodysplastic syndrome is often suspected. After routine assessment including a broad range of blood tests, bone marrow biopsy, and cytogenetics, a definite diagnosis can still not be found for some patients, although they have symptomatic cytopenia. In these cases, next generation sequencing is a valuable supplement in identifying patients with early stages of myeloid cancer.