A laboratory technique that helps diagnose Williams syndrome among other disorders (and also various forms of mosaicism). A DNA probe for the elastin gene is made with a fluorescent label, and mixed with a sample of the patient’s DNA. If the elastin DNA is present, the probe will be attached (hybridise). This allows a determination of whether there are one or two copies of the elastin gene present.
See DNA (deoxyribonucleic acid), Elastin (gene), Mosaicism, Williams syndrome