Collaborator: University of California, Irvine

• Multiple molecular diagnoses identified through diagnostic exome sequencing

  April 2, 2026

• The likelihood of positive results from diagnostic exome sequencing is not predicted by ordering physician specialty

  April 2, 2026

• Exome sequencing covers >99% of mutations identified on targeted next-generation sequencing panels

  April 2, 2026

• Response to Cragun et al.

• Diagnostic exome sequencing positively identified relevant alterations in half of prenatal samples tested

  We performed a retroactive analysis of the first 7 cases referred to our laboratory for diagnostic exome sequencing following fetal demise or termination of pregnanc. All cases had multiple congenital anomalies identified by Level II ultrasound and were known to have normal karyotypes. All cases involved sequencing of the trio, including proband and parental samples.…

  April 2, 2026