Item Details
Gene/Locus name MLL/AFF1 (also called MLL/AF4 ) What are gene names?
Long Namefusion of MLL and AFF1 genes in cancer cells
Edit date 12:00 AM, 10 Jun 2008
MBS listing No MBS Listing
Laboratories Australian and New Zealand laboratories providing this test can be found by clicking here.
Method Laboratories may use a variety of methods to identify genetic variants. The sensitivity and specificity of these methods can vary, and some pathogenic variants in the gene may not be identified. The failure to identify a pathogenic variant may not necessarily mean that the gene is normal. Requestors should seek further advice from the laboratory.
Reference sequence No Reference Sequence for this gene.
Application Variations in this gene/locus can be associated with following disorder/s:

ACUTE LYMPHOID LEUKEMIA, OMIM 159555
ACUTE MYELOID LEUKEMIA, OMIM 159555
MYELOID/LYMPHOID LEUKEMIA, OMIM 159555
MIXED-LINEAGE LEUKEMIA, OMIM 159555
ACUTE MONOBLASTIC LEUKEMIA (AML-M5), OMIM 159555
ACUTE MYELOMONOCYTIC LEUKEMIA (AMML-M4), OMIM 159555
The formation of this gene fusion is a feature of some leukaemias. The presence of this gene fusion can be used for diagnostic and monitoring purposes.
Requestors should be aware that testing for inherited genetic variants often raises significant medical, ethical, psychological, and legal issues. Testing should be done in accordance with national guidelines which address clinical issues NHMRC and laboratory requirements NPAAC. Consultation with the genetics laboratory, a specialist clinician, or a clinical genetics service may be warranted.
Interpretation / Comment
Reference OMIM 159555