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Mendelian disorder

The Unity test enables screening for several autosomal recessive conditions from fetal DNA gathered from maternal blood.

The new assay is part of the company's prenatal and women's health offerings, but it is also developing a preeclampsia test and technology for gastrointestinal testing.

MyGene2 holds cases from 1,225 families, submitted by 880 user accounts, which include 723 unique genes, among them many new disease genes.

RNA sequencing of patient-derived fibroblasts was able to provide 10 percent of patients with a diagnosis after whole-exome sequencing had failed.

At the European Society of Human Genetics annual meeting in Copenhagen this week, several groups presented studies involving automated facial analysis software.