Variants of uncertain significance from Multiple Angles Science in 60 Ambry Genetics

>> YOUR LINK HERE: ___ http://youtube.com/watch?v=lCPCjihkbKI

For more information about genetic testing visit https://www.ambrygen.com/ • To read the abstract or view the entire research poster go to https://www.ambrygen.com/research/sci... • Neurodevelopmental (ND) disorders involve a wide range of symptoms and severity. Individuals may present with multiple indications including epilepsy, autism, intellectual disability, and developmental delay. The nonspecific nature of ND disorders can lead to significant diagnostic challenges. Multi-gene panel testing (MGPT) can help to stratify ND disorders and identify causative variants. Though large MGPTs allow for the molecular diagnosis of many possible rare diseases, they can also result in numerous variants of uncertain significance (VUS). High VUS rates can be confusing and discouraging to both patients and clinicians. Here we describe three effective approaches for reducing VUS rates in neurology MGPTs. Combining parental co-segregation studies, protein structural analysis, and RNA functional splicing assays with additional strong lines of evidence, leads to a significant decrease in VUS rates.

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