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JS Genetics announces launch of XCAT-KS, a bloodless, cheek swab test for the diagnosis of Klinefelter syndrome and other Male sex chromosome aneuploidies
Date:5/2/2012

NEW HAVEN, Conn., May 2, 2012 /PRNewswire/ -- JS Genetics announces the availability of XCAT-KS, its proprietary buccal swab test for the diagnosis of Klinefelter syndrome (KS) and other male sex chromosome aneuploidies. Klinefelter syndrome, a condition in which males have an extra X chromosome, is one of the most common genetic abnormalities in males.  It is estimated that about one in every 500 males has an extra X chromosome.

Klinefelter syndrome can affect physical development resulting in low muscle tone, infertility, gynecomastia and hypogonadism.  KS can also result in language development disorders including delayed speech and social problems such as shyness and moody behavior. However, the diagnosis of KS is not readily apparent on physical exams or by routine testing. Only 25% of KS patients are diagnosed during their lifetime. 

XCAT-KS is a PCR / pyrosequencing based test which identifies Klinefelter syndrome and other male sex chromosome aneuploidies with 100% sensitivity and specificity as detailed in a validation study published in the International Journal of Pediatric Endocrinology (2012:8  23 April 2012). 

The results of the XCAT-KS will typically be available within 3 business days following receipt of the buccal swabs at JS Genetics' CLIA certified laboratory.

In other news, JS Genetics announces that it has been awarded re-accreditation by the College of American Pathologists (CAP).  As part of the biannual re-accreditation program, CAP inspectors examine laboratory staff qualifications, as well as the laboratory's equipment, facilities and records, and the overall management of the laboratory.  The CAP Laboratory Accreditation Program, begun in the early 1960s, is recognized by the US Federal government as being equal to or more stringent than the government's own inspection program and is designed to specifically ensure the highest standard of
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