How are Chromosome 15q Duplications diagnosed?
The extra chromosome in people dup15q can be easily detected through a blood test called a chromosome study. An additional genetic test, called FISH (Fluorescence In Situ Hybridization), confirms the diagnosis by distinguishing an idic(15) from other supernumerary marker chromosomes. Interstitial duplications of chromosome 15 can be more difficult to detect on a routine chromosome analysis but are clearly identifiable using a 15q FISH study. Families should always discuss the results of chromosome and FISH studies with a genetic counselor or other genetics professional to ensure accurate interpretation.
