Our method for detecting TS and other sex chromosome abnormalities employs highly informative single nucleotide polymorphism (SNP) markers from specially selected regions of the X- and Y-chromosomes, matched with an elegant, proprietary and quantitative method of genotyping. More....
The XCAT-KS test is based on the same proprietary genotyping method developed for our Turner Syndrome test. Our technology is effective in detecting the presence of heterzygocity of the X chromosome in males patients, signaling the presence of two X chromosome in effected males. More...
The pre-clinical development program for our test for Fragile X has yielded robust data showing accurate predictive value. Our test is designed to eliminate the need for s Southern Blot step thus reducing the time and cost of screening for Fragile X in males. More...
We have developed and are validating a novel approach to screen for Trisomy 21 (Down Syndrome) by assessing chromosomal relative allele frequency using single nucleotide polymorphism (SNP) markers that span chromosome 21, followed by quantitative assessment of relative allele signal strength using pyrosequencing. More...
With a Phase 1 NIH grant, we are studying a novel therapeutic for the prevention and treatment of Periventricular White Matter Injury (PWMI) in premature infants. More...
