Cytogenetics Website
Molecular Cytogenetics (FISH)
Reason for Referral
• Microdeletion syndromes (eg Smith Magenis Syndrome, DiGeorge Syndrome).
• Telomere screening in cases not appropriate for MLPA (in conjunction with Clinical Genetics consultants).
• Haematology translocations.
• Other oncology probes.
• Aneuploidy screening (rapid post-natal testing eg Down syndrome).
• Internal referrals (Marker identification, abnormality confirmation).
• Paraffin sections from selected tumours.
Reporting of Results
• Molecular cytogenetic results are usually reported with routine analysis, this may lead to some delays in reporting.
• Unless stated, reports are based on the analysis of metaphase cells.
• In the case of complex results, the interpretation and implications will be discussed with the referring clinician.
• Surplus fixed material from FISH cases is usually saved for 2 years. If follow up or further studies are required for diagnostic purposes, it may be possible to do these without a repeat sample.
Samples should be addressed to:
Cytogenetics Unit
St James's Hospital
Beckett Street
Leeds
LS9 7TF
Last Updated 12/11/07