Acute leukaemia - other (M89)

Molecular investigations

FLT3 internal tandem duplication and tyrosine kinase domain mutational analysis - targeted analysis for the FLT3 internal tandem duplication and variants within the FLT3 tyrosine kinase domain. Result has prognostic and treatment implications.

NPM1 insertion analysis - hotspot analysis for duplications within exon 12 of NPM1. Result has prognostic implications and can be used for monitoring minimal residual disease.

Myeloid panel (multi-target NGS panel (small variant).

Minimal residual disease analysis - monitoring is available for various gene fusions and variants using q-PCR: CBFB-MYH11, RUNX1-RUNX1T1, BCR-ABL, PML-RARA, NPM1 variants.

Detection of the BCR-ABL fusion gene - screen for the presence of BCR-ABL fusion transcripts using multiplex PCR.

BCR-ABL quantification - quantification of BCR-ABL transcript level and monitoring of minimal residual disease.

BCR-ABL T315I analysis - pyrosequencing for this variant only. M80.15 and M80.16 can be undertaken as sendaway tests. Please contact us to discuss.

Karyotyping

As outlined in the Test Directory.

FISH

There are several of the rarer FISH investigations outlined in the Test Directory that we do not provide (e.g. M89.34, M89.36 & M89.40 as well as many others).

Please contact us to discuss forwarding the sample elsewhere for FISH investigations.