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Integrated Solutions - The Genomic Study of Inherited Disease Brochure

Profiling a range of mutations, from large chromosomal rearrangements to single-exon duplications and point mutations, is integral to solving the puzzle of rare disease, and contributes to the long-term aim of improving the lives of rare disease patients.

No single technology is suitable for profiling every type of genetic aberration — instead, researchers can develop a more complete picture of genomic variation by utilising a range of technologies in parallel.