aplastic Anaemia (AA)
- Description
- Tests available: Karyotyping and FISH 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.
- Related condition
- Testing site
- Synnovis : Blood Sciences : King's College Hospital
- Laboratory
- SE-HMDS Cytogenetics
- Sample type and volume required
- Bone Marrow Aspirate -first draw.
- Special sample instructions
All samples must be delivered to the laboratory within 24 hours of collection.
- Turnaround time
- Please refer to Cytogenetics User Guide