WEDNESDAY, Dec. 22 (HealthDay News) -- A novel, highly sensitive, high-throughput assay approach appears to accurately detect Turner syndrome (TS), according to a study published online Dec. 22 in the Journal of Clinical Endocrinology & Metabolism.
Scott A. Rivkees, M.D., of the Yale University School of Medicine in New Haven, Conn., and colleagues developed a high-throughput test for TS, based on a quantitative method of genotyping to detect X-chromosome abnormalities. The test uses pyrosequencing to quantitate relative allele strength from single nucleotide polymorphisms (SNPs) using 18 informative SNP markers spanning the X-chromosome and one marker for detecting Y-chromosome material. To determine the validity of the test, the investigators used DNA from 132 women without TS and 74 women with TS for whom karyotypes were available.
Using the test in this cohort, the investigators identified TS with 96.0 percent sensitivity and 97.0 percent specificity. In a group of 19 women without TS and 69 women with TS, the investigators found that buccal swab DNA testing identified TS with 97.1 percent sensitivity and 84.2 percent specificity.
"These results demonstrate the validity of a high-throughput, pyrosequencing-based test for the accurate detection of TS, providing a potential alternative to karyotype testing," the authors write.
Five study authors disclosed holding equity in JS Genetics.
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