Whole Exome Sequencing with Infants in the NICU

  • Clinical Presentation:
    • Team consulted an infant-4 days old in the NICU
    • Team decided to order whole exome sequencing based on infant’s presentation
  • BG Test: 
    • Critical Trio WES
  • Results:
    • Two heterozygous c.4965C>G (p.Y1655X) and c.7007G>C (p.R2336P) pathogenic variants in BRCA2 were detected.
    • Defects in BRCA2 are the cause of Fanconi anemia complementation group D1 (FANCD1)
  • Clinical Management After Test:
    • Team arranged treatment and management for an infant with Fanconi anemia
    • Predictive genetic testing for the BRCA2 pathogenic variant available for at risk relatives in order to see if they are at high risk of breast and other BRCA2 related cancers