Myelodysplastic syndrome (MDS)

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.
Synonyms or keywords: 
Myelodyspalstic syndrome, MDS, del(5q) del(7q), monsomy 7 del(20q) Trisomy 8 EVI1, inv(3), t(3;3) PDGFRβ
Sample type and Volume required: 
Peripheral blood, bone marrow aspirate, as appropriate, minimum volume as available
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
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
Oncology Cytogenetics Laboratory at Guy's Hospital
Genetics Department
Tower Wing - 5th Floor
Guy's Hospital
Great Maze Pond
London SE1 9RT

T: 020 7188 1715
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 07/08/2015