Inherited Disease
News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
Centogene Receives Noncompliance Notice From Nasdaq Over Market Value of Shares
The market value of the company's publicly held shares has fallen below $15 million for 30 consecutive business days, triggering the notification.
ACMG Updates Cystic Fibrosis Carrier Screening Guidelines
The updated list grew from 23 variants in the CFTR gene to 100, all of which have been established as pathogenic or likely pathogenic.
Transcriptomics Unravels Role of Interferon Receptors in Down's Syndrome
The findings of a transcriptome analysis of blood from 304 individuals with Down's syndrome and 96 controls have implications for therapeutic development.
Combined Genetic Test for Three Common Hereditary Conditions is Cost Effective for Young Adults
The findings hold true only if the testing cost is less than $250 and people have access to preventive interventions.
With a sole focus on the diagnostics market, the company has rolled out dozens of NGS tests for both oncology and genetic diseases.