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MYD88 c.794T>C Mutation Analysis

Test performed by: LabPLUS - Dept. Diagnostic Genetics - Molecular Haematology

Specimen Collection

Note: Bone marrow aspirate is the preferred specimen type for this assay. Peripheral blood should only be considered if bone marrow is unobtainable and there are known to be sufficient lymphoplasmocytic cells in circulation for analysis.

CPD3 mL CPD Bone Marrow (Preferred)
EDTA3 mL EDTA Bone Marrow
CPD5 mL CPD Blood
Turnaround Time: Between 2 weeks and 4 weeks
Diagnostic Use and Interpretation

Recurrent activating mutations within MYD88 have been identified in  certain sub-types of B-cell lymphomas. The c.794T>C (L265P) mutation in exon 5 of the MYD88  gene is seen in >90% of patients with Waldenstrom's macroglobulinemia (IgM secreting  lymphoplasmacytic lymphoma) and non-IgM-secreting lymphoplasmacytic lymphoma (LPL) [N Eng  Med 2012;367:826-833]. MYD88 mutations have also been reported in up to 10-30% of other  lymphomas of B-cell origin such as; ABC-DLBCL, GCB-DLBCL, CLL and MALT lymphomas. The  c.794T>C mutation can be detected by allele specific PCR with a sensitivity of 0.1% using the  method of Varettoni et al. Blood 2013;121(13): 2522-2528.

Contact Information

To contact the Molecular Haematology team please call:

Auckland City Hospital   (09) 307 4949
Lablink   ext 22000
Prof. Peter Browett (Haematologist)     ext 9090-86281
Nikhil Ghallayan (Section Leader)   ext 22006
Molecular Haematology Lab   ext 22005

For more inforamtion about the Molecular Haematology service at LabPLUS:

Molecular Haematology information page

Last updated at 11:48:27 18/03/2021