Molecular Cytogenetic Diagnosis - In addition to investigation of structural rearrangements by e.g. chromosome painting, the section provides routine fluorescence in situ hybridization (FISH) to metaphase chromosomes for a variety of microdeletion syndromes and subtelomeric screening by multiprobe device. Interphase FISH analysis for assessment of chromosome number and the detection of clinically significant rearrangements in samples is performed on a variety of clinical material and cultured cells.
Fixed metaphase chromosome preparations for FISH
Store cytogenetic preparation at -20ºC and send, appropriately packaged, at room temperature direct to the Molecular Cytogenetics section with patient details, clinician name and department and a note of the investigation required.
Send fresh heparinised sample of venous blood to the Postnatal Cytogenetics section as detailed in that section’s notes. Clearly mark ‘for FISH’ and include details as above.
All investigations on material from leukaemic patients and solid tumours are arranged through the Cancer Cytogenetics section. Subtelomeric screening will only be performed on samples referred by a clinical geneticist.