Genomic Diagnostics offers a comprehensive range of single and multi-gene tests using molecular, cytogenetic, and genomic methods to assist in the diagnosis, management and treatment of haematological diseases. Using these multiple technologies, we can provide treating clinicians with the most relevant and actionable information to personalise the care for their patients.
Genetic testing has been used in the diagnosis, classification, and management of haematological conditions for a very long time. Genetic testing in haematology is most frequently used in the classification and management of non-inherited haematological disorders such as leukaemias and lymphomas (also known as haem-oncology). Test results in these settings can also determine the appropriate treatment for these conditions, and detect and monitor recurrence before it can be detected by other tests.
Testing for inherited DNA variants (mutations) can also be used in the diagnosis of common inherited blood disorders such as hereditary hemochromatosis (inherited iron overload) or thalassemia. Our range of haematological tests is extensive and constantly updated. If you cannot find a specific test, please give us a call.
Chromosome analysis by microscopy (conventional karyotype)
Chromosome analysis by SNP microarray (molecular karyotype)
Oncology FISH for lymphomas and leukaemias
BCR-ABL RQ-PCR
FLT3 & NPM1 Mutation Detection
JAK2 Mutation Detection
Calreticulin (CALR) exon 9 Mutation Detection
Thrombopoietin Gene (MPL) Mutation Detection
Lymphocyte Gene Rearrangement Studies
Alpha-Thalassaemia Deletion Mutation Detection
Factor V Leiden Mutation Detection
Prothombin G20210A Mutation Detection
Hereditary Haemochromatosis (HFE gene) Mutation Detection
