Anemia de Fanconi, Parte 1. Diagnóstico citogenético.

Fanconi anemia is a rare disease, with a prevalence of 1-5 per million inhabitants; It is caused by the pathogenic variants, usually biallelic, in one of the 22 FANC genes that participate in the FA/BRCA, DNA repair pathway. Accurate diagnosis is crucial for appropriate and timely management and genetic counseling. This can be done through the diepoxybutane or mitomycin C challenge chromosomal aberration test, which is the gold standard for the diagnosis of this disease. This cytogenetic study can be performed in various types of tissues as long as there are cells undergoing mitosis, such as peripheral blood lymphocytes, bone marrow cells, fibroblasts and amniocytes. Both laboratory settings for diagnosis and chromosome analysis can be complex and need to be tightly controlled and interpreted by highly specialized personnel. In this article, we present a step by step guide describing the cytogenetic protocol successfully used in a mexican laboratory, for more than 30 years. [ABSTRACT FROM AUTHOR]