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New Test Detects 50 Rare Genetic Diseases, Shortens Time to Diagnosis

New Test Detects 50 Rare Genetic Diseases, Shortens Time to Diagnosis. (2022, March 11). Newsmax Health. https://www.newsmax.com/health/health-news/genetic-disease-str-expansion-disorder-dna-diagnosis/2022/03/11/id/1060763/?ns_mail_uid=daa0fd2b-5753-4395-93a8-4163a9bc1572&ns_mail_job=DM311260_03132022&s=acs&dkt_nbr=01010280q0mu

Scientists have developed a single test that can rapidly detect a collection of rare genetic diseases. The test diagnoses conditions known collectively as "STR-expansion" disorders, which include more than 50 genetic diseases that affect the brain, nervous system, and muscles. Right now, testing for STR-expansion disorders is "hit or miss." Enter the new test, based on nanopore technology, which allows rapid "reads" of long stretches of DNA. That's key in diagnosing STR-expansion disorders because the conditions involve abnormally long "repeats" in the chemical letters that make up DNA.

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