#Genetic Test

What to Expect During Genetic Testing

In early pregnancy, your OB/GYN or healthcare provider will likely offer you the option of doing some genetic tests and screenings. Genetic tests can offer helpful information about your baby’s health, including the possibility of birth defects or genetic abnormalities. These tests are usually recommended for people who have...
Picture for What to Expect During Genetic Testing

Diagnosis of genetic cause in motor neuron disease patients could be missed due to age limits on genetic testing

Based on the findings of a new study published in Brain, researchers from the Institute of Psychiatry, Psychology & Neuroscience (IoPPN) at King's College London are calling for a complete rethink of the national guidelines surrounding who can access genetic testing for amyotrophic lateral sclerosis (ALS), also called motor neuron disease. The research suggests that there are hundreds of people with ALS in the UK for whom a genetic basis of their ALS is being missed, as they do not fit the narrow requirements for genetic testing. As guidelines are similar in many countries, this situation will likely be the same internationally, meaning potentially thousands of people being unaware of a genetic link to their ALS.
Picture for Diagnosis of genetic cause in motor neuron disease patients could be missed due to age limits on genetic testing

Genetic Testing for Malformations of Cortical Development

Methods Patients (n = 123) with a definite radiologic or histopathologic diagnosis of MCD, with or without epilepsy were included in this study. They underwent NGS-based targeted gene panel (TGP) testing, whole-exome sequencing (WES), or WES-based virtual panel testing. Selected patients who underwent epilepsy surgery (n = 69) also had somatic gene testing of brain tissue–derived DNA. We analyzed predictors of positive germline genetic finding and diagnostic yield of respective methods.
Picture for Genetic Testing for Malformations of Cortical Development

Changing patterns of genetic differentiation in the slender wild oat, Avena barbata

The slender wild oat (Avena barbata) was widely studied in California using allozymes in the 1970s and interpreted as a case of ecotypic adaptation to contrasting moisture environments. However, common garden studies suggested that the moist-associated (“mesic”) ecotype had high fitness in both moist and dry habitats, thus predicting an adaptive spread into areas occupied by the dry associated (“xeric”) ecotype. To test this prediction, we revisited 100 populations of A. barbata that were screened genetically 40 y ago. As expected, mesic allozyme and morphological markers are much more common than in the 1970s. The less-fit xeric ecotype, while still widespread, has declined markedly in range and frequency. Genotyping by sequencing of modern populations reveals striking genetic uniformity within each of the two ecotypes. In recombinants between the two ecotypes, the mesic allele at a major fitness quantitative trait locus (QTL) shows a high frequency but so do many other genomic regions not identified as fitness QTL. Additional introduced genotypes are diverse and more widespread than in the past, and our results show that these have spread into the former range of the xeric ecotype to an even greater extent than the mesic ecotype has. While these results confirm the prediction of contemporary evolution from common gardens, they also suggest that much of the change has been driven by additional waves of introduced genotypes.