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Sherrie L_Perkins_MD_PhD

ARUP to Offer Carrier Screening for More Than 100 Genetic Disorders


Sherrie L_Perkins_MD_PhD
Sherrie Perkins, MD, PhD

Counsyl, South San Francisco, has partnered with ARUP Laboratories, Salt Lake City, a nonprofit enterprise of the University of Utah, to expand its services for prepregnancy and early pregnancy genetic testing for prospective parents.

 
ARUP’s Molecular Genetic Testing Laboratory already offers a comprehensive set of testing options for a broad range of inherited disorders. The partnership with Counsyl complements and broadens ARUP’s services for genomic medicine.
 
“We are pleased that the relationship with Counsyl now allows ARUP to offer testing for over 100 recessive genetic disorders to more than half of the nation’s university, teaching, and children’s hospitals,” says Link no longer available, chief medical officer at ARUP.

Included in the Counsyl test are life-threatening conditions, such as spinal muscular atrophy, Smith-Lemli-Opitz, and Tay-Sachs disease. Several inherited metabolic disorders that can be treated with dietary modifications and supplements are also part of the test.

For tests not performed at ARUP, high-quality test performance and exceptional clinical utility are the two primary criteria used by ARUP in the selection of its laboratory partners.

The Counsyl test uses high throughput technology to simultaneously screen for more than 400 genetic variants from one tube of blood.

[Source: ARUP Laboratories]