The Genetics Department at Canterbury Health Laboratories comprises Molecular Pathology, Molecular Oncology/Haematology and Cytogenetic disciplines. We provide a portfolio of tests including single gene and panel-based testing, mitochondrial sequencing, copy number assessment and karyotyping using traditional cytogenetic techniques, microarray, MLPA, fluorescence in situ hybridisation (FISH), droplet digital PCR, Sanger sequencing and Massively Parallel Sequencing.

The Molecular Pathology lab provides testing for germline (inherited) variants. This department provides testing for a diverse range of conditions including cystic fibrosis, hypercholesterolaemia, phaeochromocytoma/paraganglioma, deafness and neurological conditions. Through the Custom Variant Testing (CVT) service, we can provide a confirmation service for variants identified by research studies, as well as an efficient familial testing and segregation service. The department also provides prenatal testing and preimplantation genetic diagnosis and screening.

Molecular Oncology/Haematology provides a range of testing for somatic (acquired) variants important in cancer and haematological conditions including solid tumours, myelodysplasia, leukaemias and lymphomas. The department works in conjunction with cytogenetics who provide complementary tests in this field.

The Cytogenetics lab performs diagnostic testing for chromosome abnormalities, using traditional karyotyping as well as fluorescence in situ hybridisation (FISH), microarray and qfPCR testing. Both constitutional and cancer investigations are undertaken as well as prenatal testing.

The laboratory is active in test development and welcomes opportunity to work with clinicians to meet new demands. We have well established national and international links for both diagnostic testing and research collaborations.