Available tests Karyotyping; Fluorescence in situ hybridisation for:
MLL to detect 11q23 rearrangement;
D5S23,D5S721/EGR1 to detect del(5q31)/-5;
D7S486/CEP7 to detect del(7q31)/-7;
D20S108 to detect del(20q);
Chromosome 8 Alpha satellite to detect trisomy 8;
EVI to detect inv(3)/t(3;3);
PDGFRβ rearrangement in CMML
Clinical details
Cytogenetic abnormalities are detected in approximately 50% of patients with myelodysplastic syndrome (MDS). They can help in establishing a diagnosis of MDS, and are also a critical part of the revised International Prognostic Scoring System for MDS, where cytogenetic abnormalities are categorised into 5 prognostic groups making up the cytogenetic scoring system. Consequently cytogenetic analysis is crucial in optimising patient management.
Peripheral blood, bone marrow aspirate, as appropriate, minimum volume as available
Storage and transport
Peripheral blood in lithium heparin or bone marrow transport medium. All other samples in bone marrow transport medium. Do not spindown or freeze samples before sending. Samples must arrive within 24 hours
Turnaround time
Current service turnaround times: Urgent 1-7 calendar days; Non-urgent 5-10 calendar days; National targets: Urgent samples 95% reported within 14 days; Non-urgent 95% reported within 21 days
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