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