Fanconi Anemia Panel

Fanconi Anemia (FA) is a rare, inherited chromosome instability syndrome, characterized by progressive bone marrow failure, pancytopenia and congenital anomalies (short stature, radial aplasia, urinary tract abnormalities, hyperpigmentation, and/or developmental delay). FA patients also have an increased risk of developing hematological malignancies, particularly acute myeloid leukemia and myelodysplastic syndrome, and an increased risk of risk of developing solid tumors of the head, neck, skin, GI tract, and genital tract. FA is usually inherited as an autosomal recessive condition. Fanconi Anemia type B (FANCB) shows X-linked inheritance, and Fanconi Anemia type R (RAD51) shows autosomal dominant inheritance. This test is specifically designed to detect germline pathogenic variants and is not appropriate for the detection of somatic variants in tumor tissue. The panel includes sequence and deletion/duplication analysis of all the listed genes.