Latest Autism Research Shows Novel CMA Test as Exceptional
Autism research has made a leeway with a latest study outcome indicating that CMA (chromosomal microarray analysis) is at least three times more capable of identifying genetic defects as compared to the other duo older tests namely fragile X testing or karyotyping.
Dr. Bai-Lin Wu and associates from the genetics diagnostic lab, Children’s Hospital, Boston, who conducted the study stated that although the other duo tests are presently benchmark approach, the novel test must additionally be a component of the preliminary analytical assessment of patients during the time of clinical identification of autism spectrum disorder or autism has been done or is doubted.
This latest autism research is available online in ‘Pediatrics’.
Autism, a multifarious condition involving impeded social interactions alongside deficit noted in communicating, language issues and inflexible, recurring behaviourisms. The study authors have written that autism is been found to affect nearly 1 individual in every one thousand people and autism spectrum disorder affecting 6 per one thousand people.
Latest Autism Research Findings – Evaluating CMA against Other Tests
The investigators evaluated the outcomes of the three tests in over eight hundred patients and the outcomes revealed the following:
- G-banded karyotype, a benchmark genetic testing noted irregular outcomes in two percent of the cases (identified nineteen of 852 patients).
- The fragile X testing spotted anomalies in 0.5 percent of the cases (4 of 861 patients). Fragile X syndrome is a disorder linked to autism.
- The CMA testing identified irregularities in eighteen percent of the cases (154 from 848 patients; 59 of them or seven percent of them were linked to likely or identified heritable disorders).
Dr. Wu, a clinical molecular geneticist as well as medical director, genetics diagnostic lab, Children’s Hospital, Boston explicated that G-banded karyotype testing looks for alterations noticeable microscopically while CMA testing looks for changes in the molecular level.
Co-investigators have stated that CMA must be deemed as a component of the preliminary analytic assessment of patients having autism spectrum disorder (ASD).
CMA – An Exceptional Test
The latest study corroborates small-scaled researches indicating that CMA is an exceptional test in spotting irregularities at a greater rate in comparison to the other benchmark tests.
Patients in the study were a comparatively high operational set of individuals having autism spectrum disorder. The gist of the study is that genetic testing is recommended for all those with ASD or autism and CMA must also be included in it.
Researchers have pointed that undergoing all 3 tests would be the best approach. However, in case one is able to do solely 2 tests then researchers have suggested going in for fragile X and CMA testing. In case a person has either ASD or autism then investigators would give highest priority to the CMA test for yielding an irregular outcome.
Limitations with Autism Testing
Researchers have pointed out that genetic testing could be helpful for parents in getting early intercession and in planning a family and forecasting the chances of getting another affected kid.
However, genetics could yet solely explicate a small number of cases (fifteen percent) of ASD and autism. The CMA testing could assist in detecting nearly half of that fifteen percent.
Another hurdle is that insurance does not provide coverage for the CMA testing and costs varying. However, CMA by itself could be costing nearly 1,200 dollars in U.S.
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