aplastic Anaemia (AA)

Tests available: Karyotyping and FISH
Aplastic Anaemia Monosomy 5/5q deletion; Monosomy 7/7q deletion Trisomy for chromosome 8 - Del(5q) 5q31 Deletion 5p15.31 Probe Del(7q) 7q22.1/7q31 Deletion Probe; CEP 8 Spectrum Orange/Aqua.
Clinical details: 
Aplastic anaemia is a rare blood disorder, which causes blood cell production to break down, and so insufficient blood cells are produced. Aplastic anemia is not a blood cancer, which is the over production of abnormal, or cancerous, blood cells. Rather, it is a lack of healthy blood cells, but this in itself leads to serious problems. Cytogenetic abnormalities are uncommon in aplastic anemia but the most common findings are +8, -7/del7q, 1q deletion. Abnormal cytogenetics can be an indicator of an MDS clone and also appears to be associated with higher transformation rates and poorer responses to therapy. In the absence of G-banded cytogenetics FISH studies for 5, 7 and 8 can be performed.
Sample type and Volume required: 
Bone Marrow Aspirate -first draw.
Turnaround time: 
Please refer to Cytogenetics User Guide
Special sample instructions: 

All samples must be delivered to the laboratory within 24 hours of collection.

SE-HMDS Department at King's College Hospital
020 3299 9000 ext 32414
c/o Central Specimen Reception
Blood Sciences Laboratory
Ground Floor Bessemer Wing
King’s College Hospital
Denmark Hill
London SE5 9RS
Mon-Fri, 9.00am-5.30pm
For clinical advice or interpretation of results, please contact the laboratory in the first instance.

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Last updated: 03/07/2017