IGK Clonality Assay – RUO

• Description of Test:

  For detection of the vast majority of IGK gene rearrangements, a multiplex master mix targeting the conserved Vk, Jk-Ck intron, Kde, and JK 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.

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

  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:
  • Aids in the study of lymphoproliferative disorders
• Turnaround Time:
  5 Days
• Specimen Requirements:
  • 1-3mL of Peripheral Blood, NAHeparin, EDTA or ACD
  • 0.25-1mL of bone marrow in NaHeparin, EDTA or ACD
  • 500 ng of purified, high quality genomic DNA
• Specimen Storage Conditions:

  2-8 C for up to 7 days prior to testing

• Specimen Shipping Conditions:
  • Peripheral blood or bone marrow: Ambient or cool. Do not freeze.
  • Isolated DNA: Ambient or frozen on dry ice.
• Locations Where Test is Performed:
  • Martinsried, Germany – LabPMM GmbH