Patients
Reproductive health
NIPT Test (Non-Invasive Prenatal Test)
A safe blood test to screen for chromosomal changes.
Genetic Carrier Screening
Screening for carriers of common genetic conditions.
Expanded Genetic Carrier Screening
Screening for carriers of hundreds of genetic conditions.
Oncology
Hereditary Breast and Ovarian Cancer Test
Detects genetic changes increasing risks for breast, ovarian and other cancers.
Inherited Colocteral Cancer Syndrome
Detects inherited genetic changes increasing risks of colorectal cancer.
Pharmacogenomics
Pharmacogenomics test
Testing to help chose the right medication, the first time.
Clinicians
Genetic information
Testing guide
Access a detailed guide for clinicians.
Genetic counselling
Learn more about our genetic counselling for patients.
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Find dedicated request forms for genetic tests.
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Explore our network of laboratories across Australia.
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Genetic testing guide
Access a detailed guide for clinicians on a wide range of genomic and genetic tests, including reproductive health, oncology, pharmacogenomics and more.
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Non-Invasive Prenatal Testing (NIPT)
Generation 46 NIPT test
Screening for changes in the fetus in all chromosomes.
Generation NIPT test
Screening for common chromosomal changes in the fetus.
Generation Plus test
Screening for common chromosomal changes plus specific microdeletion syndromes in the fetus.
Reproductive Carrier Screening
Alpha thalassaemia test
Genetic disorder causing reduced alpha globin, leading to anemia.
Cystic Fibrosis test
Genetic test for CFTR gene to assess risk or diagnose Cystic Fibrosis.
Expanded Carrier Screen – Couple’s test
Comprehensive carrier screening for over 600 genetic conditions - for couples.
Expanded Carrier Screen – Individual test
Comprehensive carrier screening for over 600 genetic conditions - for an individual.
Fragile X test
Genetic test for the most common inherited cause of intellectual disability.
Genetic Carrier Screening test
Screening for Cystic Fibrosis, Fragile X, and Spinal Muscular Atrophy.
Spinal Muscular Atrophy test
Genetic test for SMA carrier status and diagnosis through SMN1 gene mutations.
Infertility Investigations
Conventional Chromosome Analysis (Karyotype) test for Infertility
This test can be used to determine an underlying cause of infertility or recurrent miscarriage.
Cystic Fibrosis Associated congenital Bilateral Absence of the Vas Deferens test
Sometimes CFTR variants cause CBVAD without typical CF symptoms, requiring testing.
DAZ Deletion test
Y chromosome gene deletions causing male infertility (azoospermia).
Factor V/Prothrombin test
Genetic variants increasing blood clot risk.
Fragile X Associated Primary Ovarian Insufficiency test
Tests for fragile X in women with primary ovarian insufficiency or early menopause.
MTHFR test
Gene linked to various health conditions due to enzyme function changes.
Neonatal/Paediatric Genetic Testing
Coeliac Disease test
Genetic markers DQ2/DQ8 for diagnosis, high negative predictive value.
Conventional Chromosome analysis (Karyotype) test in Paediatrics
Conventional chromosome testing is used for the investigation of chromosomal aneuploidies and rearrangements.
Cystic Fibrosis test
Genetic test for CFTR gene to assess risk or diagnose Cystic Fibrosis.
Fragile X test
Genetic test for the most common inherited cause of intellectual disability.
Gilbert's Syndrome (UGT1A1) test
Genetic cause of mild jaundice, potential drug interaction risks.
Microarray test for Paediatrics
Gold standard for detecting genetic anomalies in developmental disorders and autism.
Spinal Muscular Atrophy test
Genetic test for SMA carrier status and diagnosis through SMN1 gene mutations.
Targeted FISH analysis test in Neonates
FISH can be used to confirm the diagnosis of specific chromosomal syndromes
Prenatal Diagnosis
Ploidy FISH test
FISH for investigation of ploidy status
Prenatal Diagnosis - Microarray/Chromosome Analysis test
For prenatal diagnosis of suspected chromosomal syndromes
Prenatal Diagnosis - Rapid FISH test
For prenatal diagnosis of suspected chromosomal syndromes
Products of Conception test
Investigation for recurrent pregnancy loss in products of conception.
Pharmacogenomics
Gilbert's Syndrome (UGT1A1) test
Genetic cause of mild jaundice, potential drug interaction risks.
PGx Multi tests
Broad pharmacogenomic test covering mental health, pain, cardiology and additional medications.
TPMT test
Genetic test for safe thiopurine drug use, predicting bone marrow toxicity risk.
Hereditary Breast & Ovarian Cancer
BRAoVO™ Genetic Testing & Counselling Package (GP Request) test
BRAoVO genetic panel for breast and ovarian cancer risk assessment plus pre- and post-test counselling sessions.
BRAoVO™ Plus Cancer Gene Panel test
Genetic panel for breast, ovarian, and colorectal cancer risk genes.
BRCA1 & BRCA2 test
Genetic test for cancer risk BRCA1 & BRCA2 genes.
Breast/Ovarian Cancer Gene Panel – BRAoVO™ test
Genetic panel for assessing breast and ovarian cancer risk genes.
Familial Cancer gene testing (HBOC) test
Single gene test for known familial cancer gene variants.
Inherited Colorectal Cancer Syndromes
FAP/MAP Panel test
Screens for variants in Familial Adenomatous Polyposis genes.
Familial Cancer gene testing (Colorectal cancer) test
Genetic test for colorectal cancer risk in those with family history.
Lynch Syndrome Panel test
Screens for variants in genes associated with an increased high risk of colorectal and endometrial cancers.
Solid Tumour Genetics
Breast Cancer Gene Panel Test
Testing of pathogenic variants in breast cancer associated with potential therapy and resistance to treatment.
Colorectal Cancer Gene Panel test
Genetic test for KRAS/NRAS mutations to predict response to EGFR inhibitor therapies.
Expanded Melanocytic Tumour Panel Test
Genetic panel test identifies pathogenic DNA and RNA fusion variants in melanocytic tumours.
FISH test for NSCLC
Fluorescent In Situ Hybridisation (FISH) testing for ALK or ROS in NSCLC
Gastrointestinal Stromal Tumour (GIST) Gene Panel Test
Genetic panel test for specific pathogenic variants to predict response to therapies and determine prognosis.
High Grade Lymphoma FISH probes test
Targeted Fluorescent In Situ Hybridisation (FISH) for high grade lymphoma
Lymphoma FISH Probes test
Targeted Fluorescent In Situ Hybridisation (FISH) for Lymphoma
Melanoma Gene Panel test
Panel identifies mutations for targeted therapy in melanoma, like BRAF, NRAS, KIT.
Non-small cell lung cancer (NSCLC) Gene Panel test
NGS panel for NSCLC to guide therapy by detecting mutations like EGFR, BRAF, KRAS.
Sarcoma FISH Probes test
Targeted Fluorescent In Situ Hybridsation (FISH) for sarcomas
Thyroid Cancer Gene Panel test
Genetic panel test for pathogenic variants associated with clinical therapies, risk stratification, and classification.
Cardiology
ApoE genotyping test
Genetic test for lipid metabolism disorders, related to apolipoprotein E.
FH Familial Test (single gene) test
Testing for known family variant for Familial Hypercholesterolaemia
Familial hypercholesterolaemia test
Testing for genetic changes that cause high LDL cholesterol, increasing early CHD risk.
PGx Multi tests
Broad pharmacogenomic test covering mental health, pain, cardiology and additional medications.
Inherited Haematological Disorders
Alpha thalassaemia test
Genetic disorder causing reduced alpha globin, leading to anemia.
Beta thalassaemia test
Genetic defects in beta globin causing anemia, HBB gene mutations.
Factor V/Prothrombin test
Genetic variants increasing blood clot risk.
Haemochromatosis test
Genetic disorder causing iron overload, not all carriers develop disease.
MTHFR test
Gene linked to various health conditions due to enzyme function changes.
Myeloid Haematological malignancies
AML FISH Panel test
Fluorescent In Situ Hybridisation (FISH) testing for AML
BCR-ABL test
Fusion gene test for diagnosing and monitoring chronic myeloid and lymphoid leukemias.
Calreticulin Exon 9 Mutation test
Genetic test for myeloproliferative neoplasms, often used with other molecular tests.
Conventional Chromosome Analysis (Karyotype) test for Haematology
Non-random chromosomal rearrangements are associated with different types of haematology-oncology neoplasms.
FLT3/NPM1 test
Genetic markers for acute myeloid leukemia prognosis, especially with normal karyotype.
Hypereosinophilia FISH panel test
Fluorescent In Situ Hybridisation (FISH) testing for Hypereosinophilia
JAK2 Exon 12 variants test
Identifies variants in polycythemia vera cases negative for V617F mutation.
JAK2 test
Mutation test for diagnosing myeloproliferative disorders like polycythemia vera.
MPN Panel test
A 31 gene panel for work up of PV, ET or PMF.
Microarray test for Haematology
Detects small DNA changes not visible by standard karyotyping or FISH.
Myelodysplastic syndrome FISH panel test
Fluorescent In Situ Hybridisation (FISH) testing for Myelodysplastic syndrome
Myeloid gene panel test
This 63 gene panel is used for investigation of myeloid neoplasms and myelodysplastic syndromes.
PAN Haem Panel test
Comprehensive 96 gene panel for both myeloid and lymphoid genetic markers in blood disorders.
Regions-of-interest (ROI) in the panel genes
Targeted sequencing of specific gene regions for disease-relevant mutations.
Targeted Testing (FISH) test in Haematology – Myeloid
Molecular cytogenetic test for specific chromosome regions in suspected myeloid conditions.
Thrombopoietin (MPL) test
Detects mutations in myeloproliferative disorders, used alongside other genetic tests.
Lymphoid Haematological malignancies
ALL FISH Panel test
Fluorescent In Situ Hybridisation (FISH) testing for ALL
BCR-ABL test
Fusion gene test for diagnosing and monitoring chronic myeloid and lymphoid leukemias.
CLL FISH Panel test
Fluorescent In Situ Hybridisation (FISH) testing for CLL
Conventional Chromosome Analysis (Karyotype) test for Haematology
Non-random chromosomal rearrangements are associated with different types of haematology-oncology neoplasms.
IGH Breakapart Cascade FISH panel test
Cascade FISH to elucidate an IGH rearrangement
Lymphocyte gene rearrangements test
Determines clonality in lymphoproliferative disorders by analyzing gene sequences.
Lymphoid Gene Panel test
Broad 66 gene panel for diagnosing and prognosticating lymphoid disorders.
Lymphoma FISH Panel test
Fluorescent In Situ Hybridisation (FISH) testing for Lymphoma
Microarray test for Haematology
Detects small DNA changes not visible by standard karyotyping or FISH.
Multiple myeloma FISH Panel test
Fluorescent In Situ Hybridisation (FISH) testing for Multiple Myeloma
PAN Haem Panel test
Comprehensive 96 gene panel for both myeloid and lymphoid genetic markers in blood disorders.
Regions-of-interest (ROI) in the panel genes
Targeted sequencing of specific gene regions for disease-relevant mutations.
Targeted Testing (FISH) test in Haematology - Lymphoid
Molecular cytogenetic test for specific chromosome regions in suspected lymphoid conditions.
Gastroenterology
Adenomatous polyposis gene panel test
Panel for genetic mutations linked to familial adenomatous polyposis.
Coeliac Disease test
Genetic markers DQ2/DQ8 for diagnosis, high negative predictive value.
Colorectal Cancer Gene Panel test
Genetic test for KRAS/NRAS mutations to predict response to EGFR inhibitor therapies.
Cystic Fibrosis test
Genetic test for CFTR gene to assess risk or diagnose Cystic Fibrosis.
FAP/MAP Panel test
Screens for variants in Familial Adenomatous Polyposis genes.
Familial Cancer gene testing (Colorectal cancer) test
Genetic test for colorectal cancer risk in those with family history.
Gilbert's Syndrome (UGT1A1) test
Genetic cause of mild jaundice, potential drug interaction risks.
Lynch Syndrome Panel test
Screens for variants in genes associated with an increased high risk of colorectal and endometrial cancers.
PGx Multi tests
Broad pharmacogenomic test covering mental health, pain, cardiology and additional medications.
TPMT test
Genetic test for safe thiopurine drug use, predicting bone marrow toxicity risk.
Immunology
Coeliac Disease test
Genetic markers DQ2/DQ8 for diagnosis, high negative predictive value.
HLA B27 test
Genetic marker for various inflammatory diseases.
TPMT test
Genetic test for safe thiopurine drug use, predicting bone marrow toxicity risk.
Respiratory
Alpha 1 Antitrypsin test
Test for deficiency causing lung and liver damage, linked to Pi gene alleles.
Cystic Fibrosis test
Genetic test for CFTR gene to assess risk or diagnose Cystic Fibrosis.
