Company Patents Autism Diagnosis Method
LabCorp has received a patent on a method for diagnosing autism spectrum disorders.
The method, invented by David Michael Margulies and Mark Firman Bear of Massachusetts, involves taking a tissue or body sample from a subject and then conducting a test to identify variant sequences in the subject’s genetic code, which may signify “the presence or an increased risk of developing autism spectrum disorders.” Testing can be done on children and fetuses, according to the patent.
The method is stated to aid in the diagnosis of five autism spectrum disorders: autistic disorder, Asperger’s disorder, childhood disintegrative disorder, Rett’s disorder and nonspecific pervasive developmental disorders.
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The method claims to have multiple applications, each of which provides insight into the biological basis of autism spectrum disorders through different lenses.
First, the testing of a body sample and the finding of variant sequences could lead to comparison with known variant sequences linked to autism spectrum disorders, which could lead to a more definitive diagnosis. In similar cases, entirely new variant sequences may be found, and their link to autism spectrum disorders may be analyzed.
In some more detailed applications of the method, a subject’s nucleic acids from specific gene sequences may be analyzed for mutations or variants linked to autism spectrum disorders, which may provide information on the development and expression of the disorders. Comparison of these nucleic acids could be done between samples obtained from subjects known to have autism spectrum disorders, and subjects without.
Currently, diagnosis of autism spectrum disorders is based almost entirely on behavioral observation. According to the patent, misdiagnosis occurs frequently and, as such, definitive diagnostic testing is needed to identify these disorders.
The original patent was filed in March 2014, but LabCorp was assigned the divisional patent in December.
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