From prenatal screening to clinical and molecular genetics, cancer genetics and bioinformatics — structured, clinic-focused genetic solutions.
A structured portfolio across eight core domains. The method and scope applied in each domain are planned case by case, following clinical assessment.
Assessment of fetal chromosomal and single-gene conditions during pregnancy — from non-invasive screening on maternal blood to exome-level analysis on invasive samples.
Diagnostic sequencing for unexplained clinical presentations, stepping from phenotype-led targeted panels to whole exome analysis.
Variant, deletion and duplication analysis at single-gene level, together with pharmacogenetic assessment of drug response.
Investigation of numerical and structural chromosome changes by karyotyping, FISH and chromosomal microarray.
Investigation of hereditary cancer predisposition and somatic variant profiling in tumour tissue, supporting treatment decisions.
Determination of carrier status for autosomal recessive and X-linked conditions, for risk assessment before and during pregnancy planning.
Preimplantation genetic testing (PGT) on embryos and genetic assessment in cases of infertility.
Analysis, variant classification and reporting of NGS data, with analytical and scientific support for research projects.
Test scope, sample type and reporting follow clinical assessment and the selected panel. Results are for screening/analysis purposes and are not a definitive diagnosis.
