Navigation Links
A better genetic test for autism
Date:3/14/2010

Boston, Mass. -- A large study from Children's Hospital Boston and the Boston-based Autism Consortium finds that a genetic test that samples the entire genome, known as chromosomal microarray analysis, has about three times the detection rate for genetic changes related to autism spectrum disorders (ASDs) than standard tests. Publishing in the April issue of Pediatrics (and online March 15), the authors urge that CMA become part of the first-line genetic work-up for ASDs.

Expectant parents who have family members with ASDs, as well as families who already have an affected child, often request genetic testing. However, there is still only limited knowledge about actual causative genes. The currently recommended tests (karyotyping to look for chromosomal abnormalities and testing for Fragile X, the single largest known genetic cause of ASDs) often come up negative. Chromosomal microarray analysis (CMA) is a genome-wide assay that examines the chromosomes for tiny, sub-microscopic deletions or duplications of DNA sequences, known as copy-number variants.

CMA offers about 100-fold greater resolution than standard karyotyping. However, since it is new, it is often considered a second-tier test. Depending on where a person lives, or what insurance they have, CMA may not be covered by health insurance. "Based on our findings, CMA should be considered as part of the initial clinical diagnostic evaluation of patients with ASDs," says Bai-Lin Wu, PhD, Director of Children's DNA Diagnostic Lab in the Department of Laboratory Medicine, which has offered CMA to families since 2006.

The research team, led by co-senior authors Wu (heading the Children's team), and David Miller, MD, PhD, of Children's Division of Genetics and Department of Laboratory Medicine (heading the Autism Consortium team), assessed the diagnostic value of CMA in the largest cohort to date -- 933 patients with a clinical diagnosis of ASD (by DSM-IV-TR criteria) who rec
'/>"/>

Contact: Keri Stedman
keri.stedman@childrens.harvard.edu
617-919-3110
Children's Hospital Boston
Source:Eurekalert

Page: 1 2 3

Related biology news :

1. Model may offer better understanding of embryonic development
2. ARS study provides a better understanding of how mosquitoes find a host
3. Oregon State trains graduate students to be better TAs
4. Listen to the natives for better moose monitoring
5. New material mimics bone to create better biomedical implants
6. Are new genes always better?
7. Study recommends better handling of milk in restaurants
8. Better food makes high-latitude animals bigger
9. A virtual liver, a better chance of life
10. Sweet corn study provides large-scale picture of better fields
11. Research project yields better understanding of the defective protein that causes cystic fibrosis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:8/21/2014)... and other itchy, flaky maladies in humans has now ... reefs and the extreme environments of arctic soils and ... journal PLOS Pathogens considers the diversity, ecology, ... Malassezia in light of new insights gained from ... University of Hawai,i at Mānoa scientist Anthony Amend discovered ...
(Date:8/21/2014)... the Fram Strait is a key region in the global ... Greenland and Svalbard warm Atlantic water flows to the north ... Arctic water masses and sea ice push their way out ... of the Atlantic water cools here on its way to ... the water caused in this manner drives the global band ...
(Date:8/21/2014)... RUSTON, La. A team of researchers ... innovative method for using affordable, consumer-grade 3D ... implants that can contain antibacterial and chemotherapeutic ... team comprised of doctoral students and research ... nanosystems engineering programs collaborated to create filament ...
Breaking Biology News(10 mins):From dandruff to deep sea vents, an ecologically hyper-diverse fungus 2Arctic sea ice influenced force of the Gulf Stream 2Arctic sea ice influenced force of the Gulf Stream 3Louisiana Tech University researchers use 3D printers to create custom medical implants 2Louisiana Tech University researchers use 3D printers to create custom medical implants 3
... When a study in her lab showed that mate ... in the activity of an enzyme that promotes HDL ... Illinois scientist Elvira de Mejia headed for Argentina where ... centuries. She returned with a five-year agreement signed ...
... taking place in London on Thursday 25 and Friday ... natural scientists with what is becoming the worlds largest ... genomics - the Economic and Social Research Council (ESRC) ... are often described as the ,genetic information, that makes ...
... 17, 2007 Just in time for Halloween, researchers are ... social stress, in an article scheduled for publication in the ... adults alike gear up for the anticipation and excitement of ... our inherent fear of the dark. Grillon ...
Cached Biology News:More on mate tea: lower cholesterol and an international agreement 2From GM farm animals to embryonic stem cell research 2From GM farm animals to embryonic stem cell research 3Social stress + darkness = increased anxiety 2
(Date:8/22/2014)... The Global and China Diabetes Drugs Industry ... state of the Diabetes Drug industry in Global and ... the industry, including definitions, applications and industry chain structure. ... provided with a focus on history, developments, trends and ... international and Chinese situation is also offered. , The ...
(Date:8/22/2014)... The identification of protein-coding variants underlying ... by exome sequencing. Built on Roche NimbleGen’s proprietary ... EZ Developer system has been a proven tool ... present how he achieved coverage statistics similar to ... exome kits. With over 236,000 SNPs and over ...
(Date:8/21/2014)... international research team including DESY scientists has observed tiny ... team reports in the journal Science that ... inside the nanodroplets. It is the first time that ... larger samples of what is known as superfluid helium, ... our best expectations," says Andrey Vilesov of the University ...
(Date:8/21/2014)... August 21, 2014 The College of ... private college in the Mid-Hudson Region to be designated ... begin accepting applications from qualified “high-technology” businesses that align ... very pleased to have been selected for the START-UP ... transformative initiative to stimulate economic development in New York ...
Breaking Biology Technology:Diabetes Drugs Industry Growth Analysis in Global, China Regions Research Report Available at DeepResearchReports.com 2Diabetes Drugs Industry Growth Analysis in Global, China Regions Research Report Available at DeepResearchReports.com 3Efficient Identification of Protein-Coding Variants in a Model Organism Through Exome Sequencing, New Webinar Hosted by Xtalks 2Scientists observe quantum vortices in cold helium droplets 2The College of New Rochelle Becomes First Private College in Mid-Hudson Region to Earn START-UP NY Designation 2The College of New Rochelle Becomes First Private College in Mid-Hudson Region to Earn START-UP NY Designation 3
... concerned and troubled about the editorial titled, "End ... last week's Wisconsin State Journal (08/07/03). Wisconsin is only ... this channel of distribution and growing industry. The notion ... just plain bad business. We need to encourage the ...
... Now Largest Venture Capital Firm Based in Wisconsin ... raised and closed an additional round of fund raising ... to support applied technology, life sciences, healthcare and business ... and the Midwest. Milwaukees Baird Venture Partners was picked ...
... Wisconsin Technology Network recently interviewed two University of Wisconsin-Madison researchers ... principles behind learning a game can be used in academics. ... James Gee, Ph.D. , is a professor of Curriculum and ... the author of What Video Games Have to Teach Us ...
Cached Biology Technology:Is Wisconsin a Technology Leader or Laggard? 2Milwaukee Company Raises $90 million VC Fund for Midwest Projects 2Milwaukee Company Raises $90 million VC Fund for Midwest Projects 3The Learning Game - Researchers Study Video Gaming Principles that Apply to Education 2The Learning Game - Researchers Study Video Gaming Principles that Apply to Education 3The Learning Game - Researchers Study Video Gaming Principles that Apply to Education 4The Learning Game - Researchers Study Video Gaming Principles that Apply to Education 5The Learning Game - Researchers Study Video Gaming Principles that Apply to Education 6
... Gene Inspector can perform many sophisticated DNA analysis ... much more than just another sequence analysis product. ... suite of analyses to be performed each time ... custom style sheets which specify exactly how your ...
... first fully automated proteomics workcell. It integrates ... complete data tracking. It automates the entire ... final protein expression and measurement. The ProLink ... plate to any of its instruments from ...
...
... does sequence alignment, 3D structure visualization, phylogenetic ... all in a single application. ... databases, Uniprot, sort and filter them in ... want it, rapidly searching, filtering and sorting ...
Biology Products: