Esoteric or specialized testing such as immunophenotyping, cytogenetics, or molecular diagnostics may also be used on bone marrow biopsy specimens.
Immunophenotyping and cytogenetic testing most often assists the pathologist in disease classification. For example, the application of cytogenetics may be used for classifying the subtypes of leukemias. Specifically, acute promyelocytic leukemia (APL), a subtype of acute myelogenous leukemia, possesses a chromosomal translocation which can be detected by cytogenetic testing. Detection of this translocation can also assist in determining the disease's responsiveness to therapies.
The application of molecular genetics or molecular diagnostics is commonly used in identifying the prognosis of the disease process. Examples of molecular diagnostic testing on bone marrow biopsy samples may include, but are not limited to: