News Release: Emory Healthcare , Research , School of Medicine

Jul. 12,  2010

High Throughput Array System Enriches Sequencing Ability, Clinical Genetics Testing

Emory Genetics Laboratory acquires new system to complement next-generation sequencing and genotyping

A new sequencing enrichment platform called the Fluidigm Access Array will allow Emory Genetics Laboratory to rapidly amplify and enrich regions of DNA for its "next-generation" sequencing ability and genetic testing.

The new system will be used to enhance three next-generation sequencing tests recently developed and launched at Emory for X-linked intellectual disability, congenital muscular dystrophy and congenital disorders of glycosylation (CDG)-three groups of rare but extremely serious developmental disabilities and degenerative neurological disorders present in newborns, children and adults.

The Fluidigm Access Array system can concurrently enrich up to 480 target regions or 480kb of DNA sequence, and can facilitate amplification of 48 unique samples at a time using an "integrated fluidic circuit chip." It also uses a unique method of tagging and identifying amplified sequences, which simplifies sample preparation and maximizes output in genetic testing.

The Access Array system will complement new equipment recently acquired by Emory Genetics Laboratory: the Applied Biosystem SOLiD system and Raindance Technologies' RDT 1000 instrument, which are used for the three new sequencing panels.

In addition to expanding its next generation testing menu, Emory Genetics Laboratory will use the Fluidigm Access Array system to assist in the development of its new genotyping chip. The Recessive Disorders Screening Panel, scheduled for launch later this summer, will target 90 diseases with more than 473 mutations for use in carrier screening and prenatal diagnosis.

"This new combination of next-generation sequencing equipment and targeted enrichment technology will allow our laboratory to deliver the most cutting-edge, efficient and accurate genetics diagnosis possible for a variety of rare genetic diseases," says Madhuri Hegde, PhD, FACMG, senior director of Emory Genetics Laboratory and associate professor in the Department of Human Genetics.

Emory Genetics Laboratory, within the Department of Human Genetics at Emory University School of Medicine, is a comprehensive clinical genetics testing laboratory (cytogenetics, molecular and biochemical services) specializing in molecular cytogenetics, rare disease testing and newborn screen confirmatory testing. For more information, visit geneticslab.emory.edu.

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The Robert W. Woodruff Health Sciences Center of Emory University is an academic health science and service center focused on missions of teaching, research, health care and public service.

Learn more about Emory’s health sciences:
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Web: http://emoryhealthsciences.org

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