The laboratory undertakes chromosome analysis to identify constitutional chromosome abnormalities which may be associated with problems in either individual development and / or familial reproductive problems and to detect chromosome aberrations in haematological malignancies.
Testing is performed using a variety of state-of-the-art techniques to identify structural and numerical abnormalities and to track these through families. Classical cytogenetic analysis is supplemented by molecular cytogenetic techniques, especially fluorescence in situ hybridization (FISH), Multiplex Ligation-dependent Probe Amplification (MLPA), and CGH-array.
