Genetic testing guide | Genomic Diagnostics

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.

Fetal Rhesus D Screening

Fetal Rhesus D screening test

Detection of fetal RHD gene fragments in the maternal blood to predict fetal RhD status and guide prophylactic anti-D treatment.

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.

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.

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.

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

Genotyping test to determine safe fluoropyrimidine chemotherapy use, reducing risk of toxic side effects.

Gilbert's Syndrome (UGT1A1) test

Genetic cause of mild jaundice, potential drug interaction risks.

Broad pharmacogenomics test covering mental health, pain, cardiology and additional medications.

Broad pharmacogenomics test covering mental health, pain, cardiology and additional medications.

Genetic test for safe thiopurine drug use, predicting bone marrow toxicity risk.

Hereditary Breast & Ovarian Cancer

BRAoVO™ Plus Cancer Gene Panel test

Genetic panel for breast, ovarian, and colorectal cancer risk genes.

BRAoVO™ Plus Genetic Testing & Counselling Package (GP Request) test

BRAoVO™ Plus genetic panel for breast and ovarian cancer risk assessment plus pre- and post-test counselling sessions.

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.

Broad pharmacogenomics 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.

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

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.

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.

Mutation test for diagnosing myeloproliferative disorders like polycythemia vera.

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

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.

Broad pharmacogenomics test covering mental health, pain, cardiology and additional medications.

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.

Genetic marker for various inflammatory diseases.

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.