Poster Presentation on Fanconi Anemia

Fanconi Anemia (FA) is a multisystem recessive disorder with FA patients have functional defects in one of at least 16 proteins associated with DNA repair. The current diagnostic test for FA is the chromosome breakage assay followed by single-gene Sanger sequencing which could routinely take months to complete. Scientists at the Knight Diagnostic Laboratories, including Drs. Sue Richards and Stephen Moore, developed an NGS approach using the Ion Torrent™ PGM platform. The comprehensive in-house annotation pipeline facilitates mutation calls with a high degree of confidence for identification of pathogenic variants and combines the strengths and experience of both the Cytogenetics Lab (breakage) and Molecular Genetics Lab (sequencing and microarray) to provide high quality, rapid, and cost-effective testing for the diagnosis of FA. The information was detailed in a poster poster presentation at ACMG in Mar. 2014.