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Updated: Feb 27, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[The cause of cytopenia of undetermined significance can often be found by using next generation sequencing]
Jakob Werner Hansen1, Simon Husby, Kirsten Grønbæk
1kirsten.groenbaek@regionh.dk.
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.
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.

