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Inherited Disease

News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.

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.

Orto+ will be market and distribute Todos' TM-B2 test for breast cancer screening in Romania and Austria. The test is CE marked.

A study of 10 commercial labs offering NIPT in the US found that none followed all recommendations for reporting results and informing patients and providers.

The clinical genome-wide DNA methylation test can diagnose genetic diseases that are missed by exome or genome sequencing and evaluate variants of unknown significance.

The company will use the money to launch its first product, Unity, a noninvasive prenatal test for recessively inherited single-gene disorders.

Apr
30
Sponsored by
Lexogen

This webinar will discuss novel long-read transcript sequencing (LRTseq) methods for transcriptome annotation that could increase the efficiency and accuracy of future sequencing projects.

May
15
Sponsored by
Thermo Fisher Scientific

This webinar will discuss how Radboud University Medical Center’s Department of Human Genetics is using exon-level copy number variant (CNV) detection by microarray to assist its efforts in constitutional genome testing. 

Jun
17

This webinar will provide an overview of polygenic risk scores, which aggregate dozens of genetic variants that have been linked to disease risk in genome-wide association studies (GWAS) into a single score.