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JS Genetics Develops New Non-Invasive Test, XCAT-TS, to Help Doctors Diagnose Turner Syndrome

NEW HAVEN, Conn., March 3, 2011 /PRNewswire/ -- The launch of a new, non-invasive test for the identification of Turner syndrome (TS) was announced today by JS Genetics.  The test, XCAT-TS, is a simple cheek swab that identifies girls with Turner syndrome. Until now, Turner syndrome could only be diagnosed with a Karyotype, an invasive test that requires blood from the patient. The results of the XCAT-TS validation study were published in the February 2011 issue of Journal of Clinical Endocrinology & Metabolism.  

Turner syndrome, which affects females, is a chromosome problem in which all or part of one of the two X chromosomes is missing. Girls with Turner syndrome are short and can have other medical problems such as heart abnormalities, ovarian failure, delayed menstruation, mild hearing loss, non-verbal learning disability and others.

"The average age of diagnosis of Turner syndrome is about 11 years of age, which is unfortunate because early detection and treatment of TS leads to better outcomes," stated Dr. Scott Rivkees of Yale University, a pediatric endocrinologist and co-founder of JS Genetics. "Hopefully, this new, non-invasive test will lead to earlier recognition, earlier medical interventions, and improved outcomes for these girls."

XCAT-TS is a novel non-karyotype genetic test for the identification of Turner syndrome. The test's quantitative genotyping using proprietary markers spanning the X chromosome to detect loss of chromosome material allows for accurate identification of TS with clinically meaningful sensitivity and specificity in both Classic and Mosaic forms of Turner syndrome. In addition, the XCAT-TS test can detect Y chromosome material, which if present, is associated with a higher risk of ovarian tumors in TS patients.

For more information about JS Genetics, XCAT-TS and for physicians who would like to obtain a kit at no charge, visit

About JS Genetics

JS Genetics Inc., a private company, develops and markets proprietary, high value DNA diagnostic tests for medical conditions in newborns, children, and adolescents.  In the past 4 years, JS Genetics has been awarded 4 Phase I and 3 Phase II Small Business Innovation Research (SBIR) grants from the National Institutes of Health.  The company's strategy is to develop tests using cheek swabs for sample collection on a PCR based testing platform to bring to market accurate, convenient and scalable DNA diagnostics.  

Other tests currently under development include:

  • Non-Karyotype cheek swab test for detection of Klinefelter Syndrome
  • Non-Karyotype test for detection of Down Syndrome
  • Cheek swab test for Dyslexia predisposition
  • Non-Southern Blot, cheek swab test for detection of Fragile X Syndrome

All test are developed and performed in our CLIA certified (ID# 07D1091103) and CAP accredited (CAP# 72115351) laboratory in New Haven CT.

SOURCE JS Genetics
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