Logo

Roche Harmony NIPT 22q11.2 Deletion

Jun 28, 2017

Roche has added 22q11.2 deletion testing to the Harmony Prenatal Test menu, allowing laboratories and physicians using the test to screen for 22q11.2 deletion syndrome, which is associated with heart defects, poor immune system function, cleft palate, and delayed development. The 22q11.2 deletion is estimated to occur in one out of every 2,000 to 4,000 live births.

Breaking News
The Scan

Positive Framing of Genetic Studies Can Spark Mistrust Among Underrepresented Groups

Researchers in Human Genetics and Genomics Advances report that how researchers describe genomic studies may alienate potential participants.

Small Study of Gene Editing to Treat Sickle Cell Disease

In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms.

Gut Microbiome Changes Appear in Infants Before They Develop Eczema, Study Finds

Researchers report in mSystems that infants experienced an enrichment in Clostridium sensu stricto 1 and Finegoldia and a depletion of Bacteroides before developing eczema.

Acute Myeloid Leukemia Treatment Specificity Enhanced With Stem Cell Editing

A study in Nature suggests epitope editing in donor stem cells prior to bone marrow transplants can stave off toxicity when targeting acute myeloid leukemia with immunotherapy.