Bone Marrow Failure Panel

The Bone Marrow Failure Panel analyzes genes that are associated with bone marrow failure (BMF), a condition in which the body is unable to produce enough healthy blood cells. The genetic heterogeneity associated with BMF syndromes can make it difficult to use phenotype as the sole criterion to select a definitive cause. These genes were curated based on the available evidence to date in order to provide analysis for BMF. Given the clinical overlap of BMF syndromes, broad panel testing allows for an efficient evaluation of several potential genes based on a single clinical indication. Genetic testing of these genes may help confirm a clinical diagnosis, predict disease prognosis and progression, facilitate early detection of symptoms, inform family planning and genetic counseling, or promote enrollment in clinical trials. This test is specifically designed for heritable germline mutations and is not appropriate for the detection of somatic mutations. If the patient has undergone an allogeneic bone marrow or stem cell transplant prior to genetic testing or currently has a hematological condition with actively circulating tumor cells, testing a sample type that is not derived from blood (such as cultured fibroblasts from a skin biopsy) is warranted.