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The aim was to systematically review genetic testing guidelines in the evaluation of children with autism spectrum disorders (ASDs). The Clinical Report published by the American Academy ...
/borderline intellectual disability.The high diagnostic yield obtained from our exome sequencing approach demonstrates the need to offer genetic testing in children with psychiatric disorders and comorbid mild ...
Abstract ICERs were sensitive to changes in ES or GS diagnostic Background Genome (GS) and exome sequencing (ES) yields , wait times for test results or pre- test genetic coun- could potentially identify ...
diagnoses from both tests . The combined molecular diagnostic yield was 6.3% (95% CI, 1.7%-15.2%) in the essential group (4/64 children ), 28.6% (95% CI, 3.7%-71.0%) in the equivocal group (2/7 children ...
identified 44 definitive diagnoses among the 380 tested patients (12.1%). Non- diagnostic findings (VUS and carrier) were reported in 350 (83.2%) individuals. The most frequently diagnosed conditions were ...
Background: In the United States, about 3 million people have autism spectrum disorder (ASD), and around 1 out of 59 children are diagnosed with ASD. People with ASD have characteristic social ...
, recent guidelines recommend chromosomal microarrays (CMAs) as first-tier genetic tests . This study’s first aim was to determine the clinical usefulness of CMAs in children diagnosed with ASD in a Turkish ...
examination, genetic testing , EEG study (during wakefulness and sleep), and audiometry, despite a relatively low yield . © 2006 Wiley‐Liss, Inc. ...
or Genetics clinics. As part of the standard investigation these services use a unified test panel for screening for IEM. Data was collected on the yield of metabolic testing . RESULTS Out of 188 children ...
detected disorder. Furthermore, we provide evidence of a significant difference in the diagnostic yield between CMA (3%) and WES (30%) which supports the implementation of WES as a first-tier test ...
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