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Nanopore sequencing for rare genetic disorders

Using nanopore sequencing investigators can accurately detect specific genomic disorders in a fraction of the time it takes to conduct traditional and molecular cytogenetic testing.

This sequencing is a third-generation scalable technology that enables direct, real-time analysis of long DNA or RNA fragments.

Among a wide range of possible applications, it has proven effective in identifying copy number variants (CNVs). These are additional or missing copies of genetic material within chromosomes, and they underlie many neurological, psychiatric, and malformation disorders. Routinely, CNVs are investigated through cytogenomic techniques with significant limitations in terms of resolution and turnaround times.

Lead investigator Alberto Magi said: “Conventional cytogenetics and chromosomal microarray analysis are still the gold standard for the detection of large and small CNVs, respectively, and second-generation sequencing, developed for different genetic alterations, has been adapted to identify CNVs. But because they are slow, expensive and often inconclusive, patients are given sequential genetic tests until the underlying genetic cause is finally identified."

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