Fanconi Anemia Panel

Fanconi Anemia Panel 

The Fanconi_Anemia Panel is a 18 gene test for genetic diagnostics of patients with clinical suspicion of Fanconi anemia or Nijmegen breakage syndrome. This panel is included in the Anemia Panel, Bone Marrow Failure Syndrome Panel and Comprehensive Hematology Panel.

Fanconi_anemia (FA) is an autosomal recessive genetic disorder (X-linked inheritance is observed in 2% of FA cases caused by FANCB mutations) that leads to bone marrow failure.

About Fanconi Anemia

The genetic defect in FA affects a cluster of proteins responsible for DNA repair. It is clinically defined by pancytopenia in the first decade of life and increased risk of cancer, most often acute myeloid leukemia. Over half of the FA patients have congenital defects such as short stature, abnormalities of the skin, cardiac, kidney and limb malformations especially radius aplasia are frequent. Mild microcephaly usually without intellectual disability is observed in 10%-25% of cases. Endocrine problems are common as well. Affected adults are also at high risk for non-hematologic malignancies. Allogeneic stem cell transplantation is the only treatment allowing long-term outcome. Fanconi anemia occurs in 1 in 160,000 individuals worldwide. It is more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans. Syndromes establishing differential diagnostic challenges include Seckel syndrome, Bloom syndrome and more common Nijmegen breakage syndrome (1:100,000 live births).

Eighty to 90 percent of the cases of FA are due to mutations in FANCA, FANCC and FANCG.

Genes related to Fanconi Anemia




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