JS Genetics announces availability of XCAT-KS buccal swab test

May 3 2012

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.