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hereditary disease

Blueprint provides 3,900 targeted single-gene and more than 200 panel tests covering 14 medical specialties, leveraging NGS and bioinformatics methods.

Researchers in the US and the United Arab Emirates found that RNA-seq in B-lymphoblastoid cell lines can help identify pathogenic variants that DNA testing missed.

The German company reported its quarterly earnings for the first time as a public company, following the completion of its IPO on Nov. 7.

The company said three clinical centers have validated the test in a prospective clinical trial involving more than 10,000 participants.

The company announced this week the expansion of a genetic testing program for US patients with inherited retinal disease that it has run with partners since 2017.

Under the agreement, the companies plan to offer combined genetic and biochemical testing services out of Blueprint's clinical laboratory in Seattle.

In a clinical study Baylor researchers found that PreSeek, which Natera markets as Vistara, reliably detected dominant disorders in more than 400 pregnancies.

The firm's fourth quarter preliminary revenues increased by 11 percent to $865 million year over year, while full-year revenues jumped by 21 percent to $3.3 billion.

Rady Children's will provide rapid WGS as a first-line diagnostic test for newborns in the intensive care unit at four participating hospitals in California.

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

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