Genetics and Molecular Pathology

The Genetics and Molecular Pathology division provides the latest in specialised and competitive molecular pathology and clinical genetics services across South Australia.

Molecular pathology and genetic laboratory services are provided through our three laboratories located at Flinders Medical Centre, the Royal Adelaide Hospital site and Women's and Children's Hospital.

The division also has a strong research program responsible for the development of new clinical diagnostic tests and validating the translation of research into clinical applications.

Services provided are outlined below.

Clinical consultation

On-call clinical consultation phone: 08 8222 3000

Pathologists are available to provide advice to clinicians.

Genetic diagnosis of inherited (germline) diseases

Testing is available for the neuro-genetic diagnosis of Huntington Disease, torsional dystonia, mitochondrial disorders, fragile X syndrome, Duchenne/Becker muscular dystrophy, myotonic dystrophy and spinal muscular atrophy.

DNA testing is offered for a number of eye diseases and genetic causes of deafness as well as blood disorders such as haemophilia, and other rare genetic disorders. These tests can also be performed as prenatal diagnoses.

Our research groups are international leaders in gene discovery for intellectual disability and epilepsy.

Genetic diagnosis of somatic (cancer) conditions

Our laboratory tests for genetic predispositions to cancers. We test for inherited breast cancer, the MET oncogene, chromosomal translocation and immunoglobulin and T-cell receptor gene rearrangement studies for lymphoproliferative disease, as well as somatic hypermutation studies for chronic lymphocytic leukaemia prognosis. We test for specific mutations such as qRT-PCR of BCR-ABL in CML and kRAS, BRAF and EGFR in solid tumours.

Our research groups are leaders in identification of genes and mechanisms involved in cancer and leukaemia predisposition, development and progression, as well as molecular diagnosis to detect cancer and predict drug response and resistance.

They also study genetic and serum markers of autoimmunity and infection, independent to and in association with different stages of cancers.

Molecular Oncology tests

Our services include molecular testing for:

• Lung cancer
• Colorectal cancer
• Myeloproliferative diseases
• Leukaemia

The following table provides an overview of our gene testing services, with further information in our test database available by selecting the appropriate linked gene target.

Disease	Current gene targets
Metastatic melanoma	BRAF gene mutation analysis
Lung cancer	EGFR gene mutation analysis
Colorectal cancer	KRAS gene mutation analysis BRAF gene mutation analysis
Myeloproliferative disorders	JAK2 gene mutation analysis
Glioblastoma	IDH1 and 2 mutation analysis
Pancreatic disorders	KRAS gene mutation analysis
Chronic myeloid leukaemia	BCR-ABL BCR-ABL kinase domain mutation analysis
Acute leukaemias	ETV6-ABL ETV6-PDGFRB MLL-AF4 ETV6-RUNX1 E2A-PBX1 FLT3/NPM1/CEBPA

Community and biochemical genetics services

Community and biochemical genetics services are located at the Women's and Children's Hospital site. These comprise the South Australian Maternal Serum Antenatal Screening service, the South Australian Neonatal Screening Laboratory, the Metabolic Laboratory and the National Referral Laboratory for the diagnosis of lysosomal, peroxisomal and related disorders.

The division has an international reputation in the areas of newborn screening, prenatal testing for biochemical genetic disorders and research into lysosomal diseases and gene therapy.

Cytogenetics

Cytogenetic and FISH services are available for cancers and pre- and post-natal blood and tissue samples. Recently, microarray technology has been introduced into routine diagnostic services, increasing the potential to diagnose the cause of intellectual handicap, autism, congenital malformations and developmental delay.

Gene sequencing

The IMVS offers a comprehensive Gene Sequencing Service, with an option to submit and receive data through our website.

Parentage testing and twin testing

In some situations, there is a need to determine the parent of a child. This can be for a variety of reasons, including disputes regarding child support payments, to assist in Family Law Court matters involving custody and access, or other issues such as inheritance or adoption.

We provide NATA-accredited, legally admissible and cost-effective DNA testing for disputed parentage.

DNA twin testing is also available using the same technology, but determines if two individuals are identical or not.

For more information, visit our Parentage Testing page.

Current research and development

Our research and development projects are a mix of basic, discovery and applied molecular genetics and are largely carried out under the umbrella of the Centre for Cancer Biology. We have numerous academic and industrial collaborators around the world.

Many of our oncology tests have been introduced as part of clinical trials. If we are not conducting a test you require, please contact us.