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New Products: LifeCodexx's PraenaTest

Premium

LifeCodexx is now offering three options for its next-gen sequencing-based noninvasive fetal aneuploidy test, PraenaTest. The standard option includes testing for trisomies 21, 18, and 13. One option includes testing for only trisomy 21. An expanded option includes testing for trisomies 21, 18, and 13, as well as the determination of fetal gonosomal aneuploidy for singleton pregnancies, such as Turner, Triple X, Klinefelter, and XYY syndromes. In addition, starting in 2015, patients will be able to be refunded by their statutory health insurances for a trial period.

The Scan

Myotonic Dystrophy Repeat Detected in Family Genome Sequencing Analysis

While sequencing individuals from a multi-generation family, researchers identified a myotonic dystrophy type 2-related short tandem repeat in the European Journal of Human Genetics.

TB Resistance Insights Gleaned From Genome Sequence, Antimicrobial Response Assays

Researchers in PLOS Biology explore M. tuberculosis resistance with a combination of sequencing and assays looking at the minimum inhibitory concentrations of 13 drugs.

Mendelian Disease Genes Prioritized Using Tissue-Specific Expression Clues

Mendelian gene candidates could be flagged for further functional analyses based on tissue-specific transcriptome and proteome profiles, a new Journal of Human Genetics paper says.

Single-Cell Sequencing Points to Embryo Mosaicism

Mosaicism may affect preimplantation genetic tests for aneuploidy, a single-cell sequencing-based analysis of almost three dozen embryos in PLOS Genetics finds.