Welcome to IVF
Welcome to IVF
Welcome to IVF
Chromosomal breakage studies
CHROMOSOMAL BREAKAGE STUDIESThe diagnosis of chromosome breakage disorders such as Fanconi anemia, Ataxia Telangiectasia, Sister Chromatid exchange and Blooms syndrome involves addition of chromosome breakage inducing agents specific for each disorder, to the blood culture. The test is run simultaneously with blood of a matched control. Multiple cultures of the patient and control samples are set up. A positive sample will show a higher frequency of breaks, fragile sites, radial figures or sister chromatid exchanges, compared to the control. The diagnosis of Fragile X by molecular methods has replaced cytogenetic analysis for Fragile X.
CHROMOSOMAL BREAKAGE STUDIES
Sample: Blood (3 ml in sodium heparin) from patient and age/sex matched control transported at room temperature