Myeloproliferative Disorders

The V617F mutation is seen in a number of myeloproliferative disorders such as polycythaemia vera, essential thrombocytosis and idiopathic myelofibrosis.

JAK2 exon 12 variants are observed in a significant number of V617F negative cases of polycythaemia vera (PV), and are included as a WHO major criterion for the diagnosis of PV.

Calreticulin (CALR) exon 9 mutations are seen in a number of myeloproliferative neoplasms. Consider CALR mutations in conjunction with or following other molecular tests for these disorders.

The MPL mutations W515L and W515K are seen in a number of myeloproliferative disorders such as polycythaemia vera, essential thrombocytosis and idiopathic myelofibrosis. Consider testing in conjunction with or following other molecular tests for these disorders.

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.

Fluorescence in-situ hybridisation (FISH) is a targeted molecular cytogenetic technique used for the investigation of precise chromosome regions, particularly relevant when a specific condition is suspected. The technique binds a colour labelled DNA probe to a specific region on the patient chromosomes. As this is a targeted test it is important when requesting a FISH test to indicate the clinical condition that is being tested for.

A broad range of FISH is available for the detection of non-random rearrangements, deletions and chromosome aneuploidy that are associated with a haematological malignancy. FISH is a targeted investigation and has the benefit of screening large numbers of cells to detect clonal abnormalities.

Panel Testing

Individual Probes

This panel combines detection of variants in JAK2, CALR and MPL with additional genes important in the diagnostic workup and prognostication of polycythaemia vera, essential thrombocythaemia and primary myelofibrosis.