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Whole-genome detection of deletions and duplications too small to see on a karyotype, plus regions of absence of heterozygosity.

Fluorescent DNA probes show whether a chromosome or a specific region is present in the normal number of copies.

Microscopic analysis of the complete chromosome set, and the standard test for balanced rearrangements.

Screening on maternal blood for trisomies 21, 18 and 13 and sex chromosome aneuploidies, from 10 weeks of gestation.

Rapid diagnostic test for aneuploidies of chromosomes 13, 18, 21, X and Y, with results in 24 to 48 hours.

The Solid Tumour Precision Panel is a targeted next-generation sequencing (NGS) test that analyses DNA and RNA from a single tumour sample.

NGS of selected genes for epilepsy, skeletal dysplasia and neurodevelopmental disorders, with custom panels available.

Sequencing of the protein-coding regions of approximately 20,000 genes, ideally as a trio with both parents.