Fanconi anemia (FA) is a chromosomal instability disorder associated congenital anomalies, progressive bone marrow failure, and cancer predisposition. The most commonly described anomalies include thumb and radial bone abnormalities, short stature and skin hyperpigmentation. Some patients lack these characteristic physical features and first present with bone marrow failure or cancer. Associated cancers include acute myeloid leukemia (AML), myelodysplastic syndromes (MDS), and solid tumors of the head, neck, skin, gastrointestinal tract and genital tract. The majority of cases of FA are inherited in an autosomal recessive manner. Mutations in the FANCB gene are inherited in an X-linked manner.
Our Fanconi Anemia Sequencing Panel includes sequence analysis of the following 17 genes: BRCA2, FANCD2, FANCM, BRIP1, FANCE, PALB2, ERCC4, FANCF, RAD51C, FANCA, FANCG, SLX4, FANCB, FANCI, XRCC2, FANCC, FANCL.
NOTE: Blood samples are not accepted for patients with suspected Fanconi Anemia only if there is no history of hematologic malignancies or MDS. Cultured skin fibroblasts is the recommended specimen type for patients with a history of MDS/leukemia (2 T-25 flasks). Please contact the laboratory for more information about specimen requirements.
Please use our Hereditary Cancer Requisition Form to order this test.
Any gene in the Fanconi Anemia Sequencing Panel can also be ordered individually. Please contact us directly for cost and CPT code information.