Genetic Testing for Inherited Bone Marrow Failure

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Bone Marrow Failure
Bone marrow failure occurs when blood cells, including red cells, white cells and platelets are not produced in a sufficient quantity or the cells that are produced are defective or damaged. The overall decrease in mature blood cells is called cytopenia, and bone marrow failure can be associated with single (e.g. thrombocytopenia) or multiple lineage (e.g. thrombocytopenia, neutropenia, anemia) cytopenias. In addition to cytopenias, bone marrow failure is also associated with an increased risk for hematologic malignancies such as myelodysplastic syndrome and acute myeloid leukemia.

Inherited Bone Marrow Failure Syndromes
Inherited Bone Marrow Failure Syndromes are a group of heterogeneous genetic blood disorders characterized by hematologic abnormalities. They may or may not be accompanied by additional clinical features such as physical abnormalities, developmental delay, and solid tumors. Some of the more well-characterized inherited bone marrow failure syndromes include: Congenital Amegakaryocytic Thrombocytopenia, Diamond-Blackfan Anemia, Dyskeratosis Congenita, Fanconi Anemia, Shwachman-Diamond Syndrome, Congenital Neutropenia, Thrombocytopenia-Absent Radii, and familial bone marrow failure.

It is important to distinguish inherited from acquired bone marrow failure for proper clinical management of patients and their families. Genetic testing can help identify possible causes of disease that inform decisions regarding appropriate therapies, potential donors for bone marrow transplant, and potential risk for comorbidities (Furutani and Shimamura. 2017. PubMed ID: 28297620). Recent studies suggest that as many as 18% of blood cancers may result from pathogenic germline mutations, a larger fraction than was previously thought (Churpek et al. 2015. PubMed ID: 26492932). Genetic testing may also reveal at-risk family members who may benefit from genetic testing and specific surveillance strategies. 

Our Tests
PreventionGenetics offers a 133 gene Inherited Bone Marrow Failure Panel. The panel includes genes known to be associated with bone marrow failure disorders and increased risk for hematologic malignancies. Because of the heterogeneity and overlap of clinical features within bone marrow failure disorders, a large panel of genes may provide the most efficient approach for establishing an accurate and timely diagnosis.

Inherited Bone Marrow Failure Panel

In addition to the Inherited Bone Marrow Failure Panel, PreventionGenetics’ test menu includes several smaller panels and single gene tests for cases where a clinical diagnosis may suggest a specific syndrome. See Related Tests below for more information.


Specimen Considerations - Cultured Fibroblasts
Cultured fibroblasts are the preferred specimen type when testing for inherited bone marrow failure, however, whole blood is an accepted sample. Specimen type is particularly important for patients that have undergone a bone marrow transplant and patients showing signs of active hematologic malignancy. Extracting DNA from cultured fibroblasts ensures there is no donor or somatic DNA contamination. PreventionGenetics accepts cultured fibroblasts and can assist with culturing cells from a skin biopsy. Please contact us at or 715-387-0484 for assistance with these specimen types.


Related Tests
Diamond-Blackfan Anemia Panel
Fanconi Anemia Panel
GATA2-Related Disorders via the GATA2 Gene
Hereditary Myelodysplastic Syndrome (MDS) / Acute Myeloid Leukemia (AML) Panel
Lymphedema Panel
MYH9-Related Disorders via the MYH9 Gene
Shwachman-Diamond Syndrome via the SBDS Gene
Thrombocytopenia Panel - Expanded
Churpek et al. 2015. PubMed ID: 26492932
Furutani and Shimamura. 2017. PubMed ID: 28297620