, and various other neurological diseases that are passed on genetically from parents to children.
These diseases are collectively known as short-tandem repeat expansion disorders, which means that very long DNA sequences that repeat over and over in a person's genes are causing problems. The new test uses a technique called nanopore sequencing, which scans a patient's DNA looking for 37 genes known to be involved with short-tandem repeat expansion disorders. When the test spots the genes, it checks whether they're part of these long, repetitive sequences and what those sequences are. This identifies what condition the person has.
Though none of these conditions has a cure, early diagnosis helps patients prepare for future symptoms and helps doctors manage complications.The new approach costs less than $750 and uses technology about the size of a stapler. It can also identify new repetitive sequences, which could lead to discovering conditions we don’t yet know about.“Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
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