CAT #: IGK Clonality

IGK Clonality Assay

  • Description of Test:

    For detection of the vast majority of IGK gene rearrangements, a multiplex master mix targeting the conserved Jƙ-Cƙ intron, Kde, and Jƙ regions is used for PCR amplification.  Next-generation sequencing of the PCR products is used to identify DNA sequences specific to clonal gene rearrangements.  Bioinformatics tools facilitate the characterization of sequences present at greater than 5% of the population.  These sequences can be used to track specific clonal populations.

  • Overview:

    During development of lymphoid cells, antigen receptor genes undergo somatic gene rearrangements.1

    The human immunoglobulin kappa (IGK) locus on chromosome 2 (2p11.2) includes 7 Vƙ (variable region) gene segments and 5 Jƙ (joining region) gene segments upstream of the Cƙ region.  The kappa deleting element (Kde), approximately 24 kb downstream of the Jƙ-Cƙ region, can also rearrange with Vƙ gene segments and the isolated recombination signal sequence in the Jƙ-Cƙ intronic region.2

    Specifically during B-cell development, genes encoding IGK molecules are assembled from multiple polymorphic gene segments that undergo rearrangements generating gene receptors unique in both length and sequence.  Since leukemias and lymphomas originate from the malignant transformation of individual lymphoid cells, all leukemias and lymphomas generally share one or more cell-specific or “clonal” antigen receptor gene rearrangements.  Therefore, tests that detect IGK clonal rearrangements can be useful in the study of B- and T-cell malignancies.

Service Details

  • Indications for Testing:

    •   Identify clonality in atypical lymphoproliferative disorders
    •   Support a differential diagnosis between reactive lesions and hematologic malignancies
    •   Assign presumptive lineage in mature monoclonal lymphoproliferative disorders
    •   Monitor and evaluate disease recurrence

  • Service Description:

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References

1.   Tonegawa, S. (1983) Nature. 302:575-581.
2.   Miller, JE et al. (2013, 2nd ed.) Springer Science & Business Media. 302.2.7.13 and 30.2.7.18.

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