How is 1p36 Deletion Syndrome diagnosed?
1p36 Deletion Syndrome is diagnosed by special laboratory testing. The deletion may be identified in the laboratory with high-resolution chromosome analysis or a test called FISH (fluorescent in-situ hybridization). FISH is used to detect missing pieces of chromosome material that are too small to be seen with a microscope during routine chromosome analysis. Recently, a new technology, called microarray CGH (Comparative Genomic Hybridization) has been developed. A microarray analysis compares a person’s DNA to “control DNA”. The control DNA comes from a person that doesn’t have a chromosome abnormality. A chromosome change is identified when there are differences between a person’s DNA and the control DNA. A microarray is currently the best and most accurate test to diagnose 1p36 Deletion Syndrome.