Fanconi Anemia (FA) is an inherited bone marrow failure syndrome featuring pancytopenia, predisposition to malignancy and characteristic physical abnormalities such as short stature, developmental delay, thumb abnormalities, among others. It is the most frequently reported of the rare inherited bone marrow failure syndromes. Individuals with FA require increased surveillance for malignancies and organ dysfunction. The defect relies in the inability to repair deleterious types of DNA damage resulting in genomic instability which in turn leads to increased risk of malignancy and defective haematopoiesis. In most cases, FA is inherited in an autosomal recessive manner although X-linked and autosomal dominant patterns exist.
The Igenomix Fanconi Anemia Precision Panel can be used to make an accurate and directed diagnosis as well as a differential diagnosis of pancytopenia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
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