ETV6/RUNX1| Item | Details |
|---|---|
| Gene/Locus name | ETV6/RUNX1 (also called TEL/AML ) What are gene names? |
| Long Name | fusion of ETV6 and RUNX1 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 MYELOID LEUKEMIA, OMIM 601626 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 600618 |
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