From targeted genetic testing to biochemical analysis. Find the test you are interested in and speak with our team about the next steps.
8 test categories
01 / 08From a single mutation to the whole gene
Choose the scope that matches the clinical question: a known mutation, a selected mutation panel, or analysis of the entire CFTR gene.
The exact coverage and types of genetic changes assessed are clarified before analysis. A negative result is interpreted in the context of test scope, family history and, where relevant, the partner’s findings.
02 / 08From 1 to 21 mutations
A choice of molecular tests, from one specified mutation to a 21-mutation panel. The appropriate package is selected according to the referral and personal or family history.
Selection may include variants such as Factor V Leiden and prothrombin. The mutation count describes the contents of the package; it does not mean that all variants have equal clinical significance. Your clinician determines which tests are appropriate and whether additional coagulation testing is needed.
03 / 08Molecular testing for thalassaemias
Genetic investigation of alpha-, beta- and delta-beta thalassaemia, with test selection guided by haematological findings and family history. Targeted testing for a known familial variant is also available.
Testing is tailored to the suspected genetic cause and the type of change being investigated. Delta-beta thalassaemia affects production of both delta- and beta-globin and is assessed as a distinct genetic question. Findings are interpreted alongside haematological testing.
04 / 08FMR1 gene analysis
A dedicated molecular test for expansion of the CGG repeats in FMR1. It supports investigation of fragile X syndrome and carrier testing, according to the clinical indication.
This is a targeted repeat-expansion investigation. Method selection and interpretation depend on the particular referral and family history. Findings are discussed in the context of genetic counselling.
05 / 08Targeted tests & molecular panels
Molecular investigation of sexually transmitted infections through targeted testing or a combination of assays. Selection is guided by history, symptoms and clinical indication.
Example targets include Chlamydia trachomatis, Neisseria gonorrhoeae, Mycoplasma genitalium and Trichomonas vaginalis. HSV-1/2 testing is also available when indicated. The appropriate sample and panel targets are confirmed before collection. HPV is presented in a separate card.
06 / 08HPV detection & genotyping
Molecular detection of human papillomavirus and genotyping, according to the selected assay. Your gynaecologist interprets the information alongside the other findings from your assessment.
A positive HPV test is not a cancer diagnosis. Your clinician determines appropriate follow-up based on the result, your age and previous screening history. The suitable sample type and HPV types covered are clarified before collection.
07 / 08Prenatal screening using maternal blood
Risk assessment for selected chromosomal abnormalities through analysis of cell-free DNA in the pregnant woman’s blood.
This is a screening test; a high-risk result requires confirmation with diagnostic testing.
Test information
08 / 08Selected markers & enzyme assays
Laboratory testing of biochemical and metabolic markers, together with selected enzyme assays. Available services include tests for G6PD, biotinidase deficiency and galactosaemia.
The appropriate sample and preparation depend on the test and the patient’s age. Contact us about a particular marker or expanded biochemical newborn screening.
No tests match these criteria. Try another name or contact us.
Contact us →This directory presents selected services. Exact test scope, sample requirements, turnaround time and price are confirmed with the laboratory before testing. Photographs are illustrative.
Our team can guide test selection based on your referral and the clinical question.
