Article
Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis.
Journal of medical genetics - 1 Aug 2023
Joshi Gaurav, Arthur Nancy Beryl Janet, Geetha Thenral S, Datari Phaneendra Venkateswara Rao, Modak Kirti, Roy Debanjan, Chaudhury Anurag Dutta, Sundaraganesan Prasanth, Priyanka Sweety, Na Fouzia, Ramprasad Vedam, Abraham Aby, Srivastava Vivi M, Srivastava Alok, Kulkarni Uday Prakash, George Biju, Velayudhan Shaji R
Abstract excerpt
BACKGROUND: Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand crosslink (ICL) repair pathway. Accurate laboratory investigations are required for FA diagnosis for the clinical management of the patients. We performed chromosome breakage analysis (CBA), FANCD2 ubiquitination (FANCD2-Ub) analysis and...
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