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