Inherited Disease

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

The companies will offer free testing to  more rapidly identify individuals with certain mutations, supporting Inozyme's efforts to develop and test new treatments.

Rainbow will offer Color's hereditary cancer and heart health genetic risk assessment tests to patients in Hong Kong.

Amid reporting a loss of about $2.0 million for the quarter, Celcuity also said that it had completed the development of its second test, for breast cancer, based on the CELx platform.

Seventy-eight percent of participants had at least one positive carrier screening result and 3.5 percent had a medically actionable secondary finding.

UK researchers found that just 22 percent of screening recommendations for rare newborn diseases were based on systematic reviews of available evidence.