Chromosomal Microarray (CMA)
Whole-genome detection of deletions and duplications too small to see on a karyotype, plus regions of absence of heterozygosity.
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Finding the genetic cause of developmental delay, congenital anomalies and suspected syndromes, and what it means for the family.
Rare disorders are individually uncommon but collectively affect a large number of children and families. Many have a genetic cause.
Identifying that cause can end a long diagnostic journey, guide management, inform prognosis and clarify the chance of recurrence in the family.
For families looking for a diagnosis, and for the paediatricians and specialists who refer them.
Tests and pages for clinicians and healthcare professionals. Browse our portfolio of tests.
Whole-genome detection of deletions and duplications too small to see on a karyotype, plus regions of absence of heterozygosity.
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Fluorescent DNA probes show whether a chromosome or a specific region is present in the normal number of copies.
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Microscopic analysis of the complete chromosome set, and the standard test for balanced rearrangements.
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NGS of selected genes for epilepsy, skeletal dysplasia and neurodevelopmental disorders, with custom panels available.
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Sequencing of the protein-coding regions of approximately 20,000 genes, ideally as a trio with both parents.
Read MoreTumour testing looks at changes in the cancer to guide treatment. When an inherited cancer risk is suspected, a genetic counsellor can explain what separate germline testing involves and what it may mean for relatives.