Lymphoid Neoplasms

B-cell immunoglobulin heavy chain (IgH) gene rearrangements

This test is for the IgH gene rearrangements (FR1, FR2 and FR3) and will detect greater than 80% of B-cell lymphoproliferative disorders.

T-cell Receptor (beta and gamma) gene rearrangements:

This test is for detecting monoclonality of T lymphocytes using primers targeted at both beta and gamma gene rearrangements, and will detect at least 90% of T-cell lymphoproliferative disorders.

Bcl-2

This test is specific for the major breakpoint region (mbr) of the bcl-2 associated translocation [t(14;18)]. This translocation is associated with up to 85% of lymphomas with a follicular morphology, and with approximately one third of diffuse large cell lymphomas.

Bcl-1

This test is specific for the translocation involving the Cyclin D1 gene [t(11;14)]. It is commonly associated with Mantle Cell Lymphoma (MCL).

Non-random chromosomal rearrangements are associated with different types of haematology-oncology neoplasms. Cytogenetic investigation using a combination of technologies may assist in the diagnosis, prognosis and staging of the haematological malignancy.

Conventional cytogenetic analysis

Conventional chromosome analysis and targeted FISH are the premier tests for the investigation of haematological malignancies. The conventional chromosome study involves microscopic examination and screening of the whole genome at the cellular level to detect large genomic changes and chromosomal rearrangements that may be prognostic or diagnostic indicators in malignant disease.

*Doctor collect. Sample must be kept sterile and moist. DO NOT USE FORMALIN. USE ANTIBIOTIC TRANSPORT MEDIA available from the Histology Department of your local laboratory. For overnight transport cover large specimens with ANTIBIOTIC TRANSPORT MEDIA OR STERILE NORMAL SALINE and sent to your local laboratory IMMEDIATELY. Please indicate if specimen is to be shared with Histology.

Chromosome microarray (also known as molecular karyotyping) is an advanced genome-wide investigation used to detect sub-microscopic DNA changes that are not detectable by conventional karyotype and/or fluorescence in-situ hybridisation (FISH). This technique can be used in the diagnostic investigation of haematological malignancies such as chronic lymphocytic leukemia, to detect regions of loss and/or gain of DNA and copy neutral loss of heterozygosity (CNLOH). This test will provide information about the genes involved in regions of copy number alteration. The information provided will assist in diagnosis, prognosis and staging of the malignancy and patient management.

Microarray and targeted FISH analysis has recently been established as the gold standard cytogenomic investigation of CLL.

This panel offers comprehensive testing for genomic variants that can provide diagnostic and prognostic information for patients with lymphoid disorders including chronic lymphocytic leukaemia, mantle cell lymphoma, hairy cell leukaemia, lymphoplasmacytic lymphoma and follicular lymphoma. It is based on international guidelines and best practices. If required, customisation to suit individual patient needs can be offered.

This panel combines genes from both Myeloid and Lymphoid Gene Panels, recognising that some haematological disorders require additional genes for their workup, classification and prognostication.