FISH Studies

Please contact Cytogenetics laboratory for further information.

There are a great number of FISH probes available. Only the most common probes are kept in stock as they are expensive and have a limited shelf life. Aneuploidy probes commonly used in antenatal diagnosis for chromosomes 13, 18, 21, X and Y are available in the lab.

If a specific chromosome abnormality is suspected, please discuss the case with the laboratory before sending the blood sample. In general, the use of FISH probes is indicated as a result of an abnormal finding by the laboratory on routine banding studies.

Exceptions to this are the so called ‘deletion’ probes. This laboratory retains probes for the following deletions; 22q11 deletion – Di George syndrome, 22q13.1 deletion – Phelan McDermid syndrome,  Prader Willi syndrome, Angelman syndrome, Williams syndrome, Smith-Magenis syndrome and Miller-Dieker syndrome. Blood sent for these deletion FISH studies can have a routine chromosome analysis done in addition to the FISH analysis if required.

The laboratory also performs haematology cancer cytogenetics and FISH.

The Haematology Malignancy FISH probes available are:

• BCR/ABL
• t(8;21)
• del 13q14
• del 17p13
• 14q23 break apart – for myeloma’s, burkitt’s, mantle cell and follicular lymphoma’s
• Inv(16)/t(16;16)
• XX/XY – for sex-mismatched allografts
• Del 11q22
• Rearrangement of 11q23
• t(15;17)
• t(8;14)

New probes are added to this list continuously.