PACB - PacBio ARUP Laboratories to collaborate to improve rare disease diagnoses

PacBio (PACB -3.2%) will work with ARUP Laboratories on a study to evaluate whether the solve rate for rare disease cases can be increased. ARUP uses a PacBio Sequel IIe system in its Utah NeoSeq Project which can provide a genetic diagnosis for patients in the neonatal intensive care unit in less than a week. Researchers hope to identify variants in areas of the genome that are difficult to sequence and increase diagnostic yield for rare disease cases. The companies say that the cause of half of rare disease cases is unknown. Read about PacBio's recent Q3 2021 earnings.

For further details see:

PacBio, ARUP Laboratories to collaborate to improve rare disease diagnoses