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 www.jsgenetic
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