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Test Code: VHHA
Description: VH HYPERMUTATION IN CLL. The presence or absence of somatic mutation in the variable region of the immunoglobulin heavy chain gene (IgVH) distinguishes between two disease subsets of Chronic Lymphocytic Leukemia. The median survival of patients with unmutated IgVH genes showing 98% or greater homology to the germ-line sequence ranges from 79-119 months compared to between 124-293 months for patients with mutated IgVH genes. Given the differences in outcome between mutated and unmutated IgVH CLL, it is important to determine the mutation status at the time of diagnosis. This RT-PCR and sequencing assay identifies mutations by comparison of the patient’s sequence with the consensus germline sequence. Samples with a mutation rate <2% are categorized as “unmutated” while samples with a rate >2% mutation rate are categorized as “mutated”.


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